Search

Your search keyword '"Halldorsson, Bjarni V."' showing total 145 results
Start Over Author "Halldorsson, Bjarni V."
145 results on '"Halldorsson, Bjarni V."'

101. Diversity in non-repetitive human sequences not found in the reference genome

Author

Kehr, Birte, primary, Helgadottir, Anna, additional, Melsted, Pall, additional, Jonsson, Hakon, additional, Helgason, Hannes, additional, Jonasdottir, Adalbjörg, additional, Jonasdottir, Aslaug, additional, Sigurdsson, Asgeir, additional, Gylfason, Arnaldur, additional, Halldorsson, Gisli H, additional, Kristmundsdottir, Snaedis, additional, Thorgeirsson, Gudmundur, additional, Olafsson, Isleifur, additional, Holm, Hilma, additional, Thorsteinsdottir, Unnur, additional, Sulem, Patrick, additional, Helgason, Agnar, additional, Gudbjartsson, Daniel F, additional, Halldorsson, Bjarni V, additional, and Stefansson, Kari, additional

Published
2017
Full Text
View/download PDF

103. Genome-wide association study identifies 74 loci associated with educational attainment

Author

Okbay, Aysu, Beauchamp, Jonathan P., Fontana, Mark Alan, Lee, James J., Pers, Tune H., Rietveld, Cornelius A., Turley, Patrick, Chen, Guo-Bo, Emilsson, Valur, Meddens, S. Fleur W., Oskarsson, Sven, Pickrell, Joseph K., Thom, Kevin, Timshel, Pascal, de Vlaming, Ronald, Abdellaoui, Abdel, Ahluwalia, Tarunveer S., Bacelis, Jonas, Baumbach, Clemens, Bjornsdottir, Gyda, Brandsma, Johannes H., Concas, Maria Pina, Derringer, Jaime, Furlotte, Nicholas A., Galesloot, Tessel E., Girotto, Giorgia, Gupta, Richa, Hall, Leanne M., Harris, Sarah E., Hofer, Edith, Horikoshi, Momoko, Huffman, Jennifer E., Kaasik, Kadri, Kalafati, Ioanna P., Karlsson, Robert, Kong, Augustine, Lahti, Jari, van der Lee, Sven J., de Leeuw, Christiaan, Lind, Penelope A., Lindgren, Karl-Oskar, Liu, Tian, Mangino, Massimo, Marten, Jonathan, Mihailov, Evelin, Miller, Michael B., van der Most, Peter J., Oldmeadow, Christopher, Payton, Antony, Pervjakova, Natalia, Peyrot, Wouter J., Qian, Yong, Raitakari, Olli, Rueedi, Rico, Salvi, Erika, Schmidt, Brge, Schraut, Katharina E., Shi, Jianxin, Smith, Albert V., Poot, Raymond A., St Pourcain, Beate, Teumer, Alexander, Thorleifsson, Gudmar, Verweij, Niek, Vuckovic, Dragana, Wellmann, Juergen, Westra, Harm-Jan, Yang, Jingyun, Zhao, Wei, Zhu, Zhihong, Alizadeh, Behrooz Z., Amin, Najaf, Bakshi, Andrew, Baumeister, Sebastian E., Biino, Ginevra, Bonnelykke, Klaus, Boyle, Patricia A., Campbell, Harry, Cappuccio, Francesco P., Davies, Gail, De Neve, Jan-Emmanuel, Deloukas, Panos, Demuth, Ilja, Ding, Jun, Eibich, Peter, Eisele, Lewin, Eklund, Niina, Evans, David M., Faul, Jessica D., Feitosa, Mary F., Forstner, Andreas J., Gandin, Ilaria, Gunnarsson, Bjarni, Halldorsson, Bjarni V., Harris, Tamara B., Heath, Andrew C., Hocking, Lynne J., Holliday, Elizabeth G., Homuth, Georg, Horan, Michael A., Hottenga, Jouke-Jan, de Jager, Philip L., Joshi, Peter K., Jugessur, Astanand, Kaakinen, Marika A., Kahonen, Mika, Kanoni, Stavroula, Keltigangas-Jarvinen, Liisa, Kiemeney, Lambertus A. L. M., Kolcic, Ivana, Koskinen, Seppo, Kraja, Aldi T., Kroh, Martin, Kutalik, Zoltan, Latvala, Antti, Launer, Lenore J., Lebreton, Mael P., Levinson, Douglas F., Lichtenstein, Paul, Lichtner, Peter, Liewald, David C. M., Loukola, Anu, Madden, Pamela A., Magi, Reedik, Maki-Opas, Tomi, Marioni, Riccardo E., Marques-Vidal, Pedro, Meddens, Gerardus A., McMahon, George, Meisinger, Christa, Meitinger, Thomas, Milaneschi, Yusplitri, Milani, Lili, Montgomery, Grant W., Myhre, Ronny, Nelson, Christopher P., Nyholt, Dale R., Ollier, William E. R., Palotie, Aarno, Paternoster, Lavinia, Pedersen, Nancy L., Petrovic, Katja E., Porteous, David J., Raikkonen, Katri, Ring, Susan M., Robino, Antonietta, Rostapshova, Olga, Rudan, Igor, Rustichini, Aldo, Salomaa, Veikko, Sanders, Alan R., Sarin, Antti-Pekka, Schmidt, Helena, Scott, Rodney J., Smith, Blair H., Smith, Jennifer A., Staessen, Jan A., Steinhagen-Thiessen, Elisabeth, Strauch, Konstantin, Terracciano, Antonio, Tobin, Martin D., Ulivi, Sheila, Vaccargiu, Simona, Quaye, Lydia, van Rooij, Frank J. A., Venturini, Cristina, Vinkhuyzen, Anna A. E., Volker, Uwe, Volzke, Henry, Vonk, Judith M., Vozzi, Diego, Waage, Johannes, Ware, Erin B., Willemsen, Gonneke, Attia, John R., Bennett, David A., Berger, Klaus, Bertram, Lars, Bisgaard, Hans, Boomsma, Dorret I., Borecki, Ingrid B., Bultmann, Ute, Chabris, Christopher F., Cucca, Francesco, Cusi, Daniele, Deary, Ian J., Dedoussis, George V., van Duijn, Cornelia M., Eriksson, Johan G., Franke, Barbara, Franke, Lude, Gasparini, Paolo, Gejman, Pablo V., Gieger, Christian, Grabe, Hans-Jorgen, Gratten, Jacob, Groenen, Patrick J. F., Gudnason, Vilmundur, van der Harst, Pim, Hayward, Caroline, Hinds, David A., Hoffmann, Wolfgang, Hyppnen, Elina, Iacono, William G., Jacobsson, Bo, Jarvelin, Marjo-Riitta, Jockel, Karl-Heinz, Kaprio, Jaakko, Kardia, Sharon L. R., Lehtimaki, Terho, Lehrer, Steven F., Magnusson, Patrik K. E., Martin, Nicholas G., McGue, Matt, Metspalu, Andres, Pendleton, Neil, Penninx, Brenda W. J. H., Perola, Markus, Pirastu, Nicola, Pirastu, Mario, Polasek, Ozren, Posthuma, Danielle, Power, Christine, Province, Michael A., Samani, Nilesh J., Schlessinger, David, Schmidt, Reinhold, Sorensen, Thorkild I. A., Spector, Tim D., Stefansson, Kari, Thorsteinsdottir, Unnur, Thurik, A. Roy, Timpson, Nicholas J., Tiemeier, Henning, Tung, Joyce Y., Uitterlinden, Andre G., Vitart, Veronique, Vollenweider, Peter, Weir, David R., Wilson, James F., Wright, Alan F., Conley, Dalton C., Krueger, Robert F., Smith, George Davey, Hofman, Albert, Laibson, David I., Medland, Sarah E., Meyer, Michelle N., Yang, Jian, Johannesson, Magnus, Visscher, Peter M., Esko, Tonu, Koellinger, Philipp D., Cesarini, David, Benjamin, Daniel J., Okbay, Aysu, Beauchamp, Jonathan P., Fontana, Mark Alan, Lee, James J., Pers, Tune H., Rietveld, Cornelius A., Turley, Patrick, Chen, Guo-Bo, Emilsson, Valur, Meddens, S. Fleur W., Oskarsson, Sven, Pickrell, Joseph K., Thom, Kevin, Timshel, Pascal, de Vlaming, Ronald, Abdellaoui, Abdel, Ahluwalia, Tarunveer S., Bacelis, Jonas, Baumbach, Clemens, Bjornsdottir, Gyda, Brandsma, Johannes H., Concas, Maria Pina, Derringer, Jaime, Furlotte, Nicholas A., Galesloot, Tessel E., Girotto, Giorgia, Gupta, Richa, Hall, Leanne M., Harris, Sarah E., Hofer, Edith, Horikoshi, Momoko, Huffman, Jennifer E., Kaasik, Kadri, Kalafati, Ioanna P., Karlsson, Robert, Kong, Augustine, Lahti, Jari, van der Lee, Sven J., de Leeuw, Christiaan, Lind, Penelope A., Lindgren, Karl-Oskar, Liu, Tian, Mangino, Massimo, Marten, Jonathan, Mihailov, Evelin, Miller, Michael B., van der Most, Peter J., Oldmeadow, Christopher, Payton, Antony, Pervjakova, Natalia, Peyrot, Wouter J., Qian, Yong, Raitakari, Olli, Rueedi, Rico, Salvi, Erika, Schmidt, Brge, Schraut, Katharina E., Shi, Jianxin, Smith, Albert V., Poot, Raymond A., St Pourcain, Beate, Teumer, Alexander, Thorleifsson, Gudmar, Verweij, Niek, Vuckovic, Dragana, Wellmann, Juergen, Westra, Harm-Jan, Yang, Jingyun, Zhao, Wei, Zhu, Zhihong, Alizadeh, Behrooz Z., Amin, Najaf, Bakshi, Andrew, Baumeister, Sebastian E., Biino, Ginevra, Bonnelykke, Klaus, Boyle, Patricia A., Campbell, Harry, Cappuccio, Francesco P., Davies, Gail, De Neve, Jan-Emmanuel, Deloukas, Panos, Demuth, Ilja, Ding, Jun, Eibich, Peter, Eisele, Lewin, Eklund, Niina, Evans, David M., Faul, Jessica D., Feitosa, Mary F., Forstner, Andreas J., Gandin, Ilaria, Gunnarsson, Bjarni, Halldorsson, Bjarni V., Harris, Tamara B., Heath, Andrew C., Hocking, Lynne J., Holliday, Elizabeth G., Homuth, Georg, Horan, Michael A., Hottenga, Jouke-Jan, de Jager, Philip L., Joshi, Peter K., Jugessur, Astanand, Kaakinen, Marika A., Kahonen, Mika, Kanoni, Stavroula, Keltigangas-Jarvinen, Liisa, Kiemeney, Lambertus A. L. M., Kolcic, Ivana, Koskinen, Seppo, Kraja, Aldi T., Kroh, Martin, Kutalik, Zoltan, Latvala, Antti, Launer, Lenore J., Lebreton, Mael P., Levinson, Douglas F., Lichtenstein, Paul, Lichtner, Peter, Liewald, David C. M., Loukola, Anu, Madden, Pamela A., Magi, Reedik, Maki-Opas, Tomi, Marioni, Riccardo E., Marques-Vidal, Pedro, Meddens, Gerardus A., McMahon, George, Meisinger, Christa, Meitinger, Thomas, Milaneschi, Yusplitri, Milani, Lili, Montgomery, Grant W., Myhre, Ronny, Nelson, Christopher P., Nyholt, Dale R., Ollier, William E. R., Palotie, Aarno, Paternoster, Lavinia, Pedersen, Nancy L., Petrovic, Katja E., Porteous, David J., Raikkonen, Katri, Ring, Susan M., Robino, Antonietta, Rostapshova, Olga, Rudan, Igor, Rustichini, Aldo, Salomaa, Veikko, Sanders, Alan R., Sarin, Antti-Pekka, Schmidt, Helena, Scott, Rodney J., Smith, Blair H., Smith, Jennifer A., Staessen, Jan A., Steinhagen-Thiessen, Elisabeth, Strauch, Konstantin, Terracciano, Antonio, Tobin, Martin D., Ulivi, Sheila, Vaccargiu, Simona, Quaye, Lydia, van Rooij, Frank J. A., Venturini, Cristina, Vinkhuyzen, Anna A. E., Volker, Uwe, Volzke, Henry, Vonk, Judith M., Vozzi, Diego, Waage, Johannes, Ware, Erin B., Willemsen, Gonneke, Attia, John R., Bennett, David A., Berger, Klaus, Bertram, Lars, Bisgaard, Hans, Boomsma, Dorret I., Borecki, Ingrid B., Bultmann, Ute, Chabris, Christopher F., Cucca, Francesco, Cusi, Daniele, Deary, Ian J., Dedoussis, George V., van Duijn, Cornelia M., Eriksson, Johan G., Franke, Barbara, Franke, Lude, Gasparini, Paolo, Gejman, Pablo V., Gieger, Christian, Grabe, Hans-Jorgen, Gratten, Jacob, Groenen, Patrick J. F., Gudnason, Vilmundur, van der Harst, Pim, Hayward, Caroline, Hinds, David A., Hoffmann, Wolfgang, Hyppnen, Elina, Iacono, William G., Jacobsson, Bo, Jarvelin, Marjo-Riitta, Jockel, Karl-Heinz, Kaprio, Jaakko, Kardia, Sharon L. R., Lehtimaki, Terho, Lehrer, Steven F., Magnusson, Patrik K. E., Martin, Nicholas G., McGue, Matt, Metspalu, Andres, Pendleton, Neil, Penninx, Brenda W. J. H., Perola, Markus, Pirastu, Nicola, Pirastu, Mario, Polasek, Ozren, Posthuma, Danielle, Power, Christine, Province, Michael A., Samani, Nilesh J., Schlessinger, David, Schmidt, Reinhold, Sorensen, Thorkild I. A., Spector, Tim D., Stefansson, Kari, Thorsteinsdottir, Unnur, Thurik, A. Roy, Timpson, Nicholas J., Tiemeier, Henning, Tung, Joyce Y., Uitterlinden, Andre G., Vitart, Veronique, Vollenweider, Peter, Weir, David R., Wilson, James F., Wright, Alan F., Conley, Dalton C., Krueger, Robert F., Smith, George Davey, Hofman, Albert, Laibson, David I., Medland, Sarah E., Meyer, Michelle N., Yang, Jian, Johannesson, Magnus, Visscher, Peter M., Esko, Tonu, Koellinger, Philipp D., Cesarini, David, and Benjamin, Daniel J.

Abstract

Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals(1). Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends our earlier discovery sample(1,2) of 101,069 individuals to 293,723 individuals, and a replication study in an independent sample of 111,349 individuals from the UK Biobank. We identify 74 genome-wide significant loci associated with the number of years of schooling completed. Single-nucleotide polymorphisms associated with educational attainment are disproportionately found in genomic regions regulating gene expression in the fetal brain. Candidate genes are preferentially expressed in neural tissue, especially during the prenatal period, and enriched for biological pathways involved in neural development. Our findings demonstrate that, even for a behavioural phenotype that is mostly environmentally determined, a well-powered GWAS identifies replicable associated genetic variants that suggest biologically relevant pathways. Because educational attainment is measured in large numbers of individuals, it will continue to be useful as a proxy phenotype in efforts to characterize the genetic influences of related phenotypes, including cognition and neuropsychiatric diseases.

Published
2016
Full Text
View/download PDF

104. The rate of meiotic gene conversion varies by sex and age

Author

Halldorsson, Bjarni V, primary, Hardarson, Marteinn T, additional, Kehr, Birte, additional, Styrkarsdottir, Unnur, additional, Gylfason, Arnaldur, additional, Thorleifsson, Gudmar, additional, Zink, Florian, additional, Jonasdottir, Adalbjorg, additional, Jonasdottir, Aslaug, additional, Sulem, Patrick, additional, Masson, Gisli, additional, Thorsteinsdottir, Unnur, additional, Helgason, Agnar, additional, Kong, Augustine, additional, Gudbjartsson, Daniel F, additional, and Stefansson, Kari, additional

Published
2016
Full Text
View/download PDF

105. popSTR2 enables clinical and population-scale genotyping of microsatellites.

Author

Kristmundsdottir, Snædis, Eggertsson, Hannes P, Arnadottir, Gudny A, and Halldorsson, Bjarni V

Subjects
PIPELINES, GENOTYPES, MICROSATELLITE repeats, BIOINFORMATICS, FLAGS, SCRIPTS
Abstract

Summary popSTR2 is an update and augmentation of our previous work 'popSTR: a population-based microsatellite genotyper'. To make genotyping sensitive to inter-sample differences, we supply a kernel to estimate sample-specific slippage rates. For clinical sequencing purposes, a panel of known pathogenic repeat expansions is provided along with a script that scans and flags for manual inspection markers indicative of a pathogenic expansion. Like its predecessor, popSTR2 allows for joint genotyping of samples at a population scale. We now provide a binning method that makes the microsatellite genotypes more amenable to analysis within standard association pipelines and can increase association power. Availability and implementation https://github.com/DecodeGenetics/popSTR. Supplementary information Supplementary data are available at Bioinformatics online. [ABSTRACT FROM AUTHOR]

Published
2020
Full Text
View/download PDF

106. Optimal haplotype block-free selection of tagging SNPs for Genome-wide association studies

Author

Halldorsson, Bjarni V., Bafna, Vineet, Lippert, Ross, Schwartz, Russell, Francisco M. La Vega, Istrail, Sorin, and Clark, Andrew G.

Subjects
Haplotypes -- Research, Chromosomes -- Research, Genomes -- Research, Genetic research, Health
Abstract

A new method for optimally selecting minimum informative subsets of SNPs, known as 'tagging' SNPs, efficient for genome-wide selection is presented. The method can be effectively applied across chromosomal regions with both high and low local linkage disequilibrium and selecting tagging SNPs optimally results in savings over selecting random SNP.

Published
2004

107. HLA class II sequence variants influence tuberculosis risk in populations of European ancestry

Author

Sveinbjornsson, Gardar, primary, Gudbjartsson, Daniel F, additional, Halldorsson, Bjarni V, additional, Kristinsson, Karl G, additional, Gottfredsson, Magnus, additional, Barrett, Jeffrey C, additional, Gudmundsson, Larus J, additional, Blondal, Kai, additional, Gylfason, Arnaldur, additional, Gudjonsson, Sigurjon Axel, additional, Helgadottir, Hafdis T, additional, Jonasdottir, Adalbjorg, additional, Jonasdottir, Aslaug, additional, Karason, Ari, additional, Kardum, Ljiljana Bulat, additional, Knežević, Jelena, additional, Kristjansson, Helgi, additional, Kristjansson, Mar, additional, Love, Arthur, additional, Luo, Yang, additional, Magnusson, Olafur T, additional, Sulem, Patrick, additional, Kong, Augustine, additional, Masson, Gisli, additional, Thorsteinsdottir, Unnur, additional, Dembic, Zlatko, additional, Nejentsev, Sergey, additional, Blondal, Thorsteinn, additional, Jonsdottir, Ingileif, additional, and Stefansson, Kari, additional

Published
2016
Full Text
View/download PDF

108. Insertion of an SVA-E retrotransposon into theCASP8gene is associated with protection against prostate cancer

Author

Stacey, Simon N., primary, Kehr, Birte, additional, Gudmundsson, Julius, additional, Zink, Florian, additional, Jonasdottir, Aslaug, additional, Gudjonsson, Sigurjon A., additional, Sigurdsson, Asgeir, additional, Halldorsson, Bjarni V., additional, Agnarsson, Bjarni A., additional, Benediktsdottir, Kristrun R., additional, Aben, Katja K.H., additional, Vermeulen, Sita H., additional, Cremers, Ruben G., additional, Panadero, Angeles, additional, Helfand, Brian T., additional, Cooper, Phillip R., additional, Donovan, Jenny L., additional, Hamdy, Freddie C., additional, Jinga, Viorel, additional, Okamoto, Ichiro, additional, Jonasson, Jon G., additional, Tryggvadottir, Laufey, additional, Johannsdottir, Hrefna, additional, Kristinsdottir, Anna M., additional, Masson, Gisli, additional, Magnusson, Olafur T., additional, Iordache, Paul D., additional, Helgason, Agnar, additional, Helgason, Hannes, additional, Sulem, Patrick, additional, Gudbjartsson, Daniel F., additional, Kong, Augustine, additional, Jonsson, Eirikur, additional, Barkardottir, Rosa B., additional, Einarsson, Gudmundur V., additional, Rafnar, Thorunn, additional, Thorsteinsdottir, Unnur, additional, Mates, Ioan N., additional, Neal, David E., additional, Catalona, William J., additional, Mayordomo, José I., additional, Kiemeney, Lambertus A., additional, Thorleifsson, Gudmar, additional, and Stefansson, Kari, additional

Published
2016
Full Text
View/download PDF

109. Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome

Author

Day, Felix R, Hinds, David A, Tung, Joyce Y, Stolk, Lisette, Styrkarsdottir, Unnur, Saxena, Richa, Bjonnes, Andrew, Broer, Linda, Dunger, David B, Halldorsson, Bjarni V, Lawlor, Debbie A, Laval, Guillaume, Mathieson, Iain, McCardle, Wendy L, Louwers, Yvonne, Meun, Cindy, Ring, Susan, Scott, Robert A, Sulem, Patrick, Uitterlinden, André G, Wareham, Nicholas J, Thorsteinsdottir, Unnur, Welt, Corrine, Stefansson, Kari, Laven, Joop S E, Ong, Ken K, Perry, John R B, Day, Felix R, Hinds, David A, Tung, Joyce Y, Stolk, Lisette, Styrkarsdottir, Unnur, Saxena, Richa, Bjonnes, Andrew, Broer, Linda, Dunger, David B, Halldorsson, Bjarni V, Lawlor, Debbie A, Laval, Guillaume, Mathieson, Iain, McCardle, Wendy L, Louwers, Yvonne, Meun, Cindy, Ring, Susan, Scott, Robert A, Sulem, Patrick, Uitterlinden, André G, Wareham, Nicholas J, Thorsteinsdottir, Unnur, Welt, Corrine, Stefansson, Kari, Laven, Joop S E, Ong, Ken K, and Perry, John R B

Abstract

Polycystic ovary syndrome (PCOS) is the most common reproductive disorder in women, yet there is little consensus regarding its aetiology. Here we perform a genome-wide association study of PCOS in up to 5,184 self-reported cases of White European ancestry and 82,759 controls, with follow-up in a further ∼2,000 clinically validated cases and ∼100,000 controls. We identify six signals for PCOS at genome-wide statistical significance (P<5 × 10(-8)), in/near genes ERBB4/HER4, YAP1, THADA, FSHB, RAD50 and KRR1. Variants in/near three of the four epidermal growth factor receptor genes (ERBB2/HER2, ERBB3/HER3 and ERBB4/HER4) are associated with PCOS at or near genome-wide significance. Mendelian randomization analyses indicate causal roles in PCOS aetiology for higher BMI (P=2.5 × 10(-9)), higher insulin resistance (P=6 × 10(-4)) and lower serum sex hormone binding globulin concentrations (P=5 × 10(-4)). Furthermore, genetic susceptibility to later menopause is associated with higher PCOS risk (P=1.6 × 10(-8)) and PCOS-susceptibility alleles are associated with higher serum anti-Müllerian hormone concentrations in girls (P=8.9 × 10(-5)). This large-scale study implicates an aetiological role of the epidermal growth factor receptors, infers causal mechanisms relevant to clinical management and prevention, and suggests balancing selection mechanisms involved in PCOS risk.

Published
2015

110. New basal cell carcinoma susceptibility loci

Author

Stacey, Simon N., primary, Helgason, Hannes, additional, Gudjonsson, Sigurjon A., additional, Thorleifsson, Gudmar, additional, Zink, Florian, additional, Sigurdsson, Asgeir, additional, Kehr, Birte, additional, Gudmundsson, Julius, additional, Sulem, Patrick, additional, Sigurgeirsson, Bardur, additional, Benediktsdottir, Kristrun R., additional, Thorisdottir, Kristin, additional, Ragnarsson, Rafn, additional, Fuentelsaz, Victoria, additional, Corredera, Cristina, additional, Gilaberte, Yolanda, additional, Grasa, Matilde, additional, Planelles, Dolores, additional, Sanmartin, Onofre, additional, Rudnai, Peter, additional, Gurzau, Eugene, additional, Koppova, Kvetoslava, additional, Nexø, Bjørn A., additional, Tjønneland, Anne, additional, Overvad, Kim, additional, Jonasson, Jon G., additional, Tryggvadottir, Laufey, additional, Johannsdottir, Hrefna, additional, Kristinsdottir, Anna M., additional, Stefansson, Hreinn, additional, Masson, Gisli, additional, Magnusson, Olafur T., additional, Halldorsson, Bjarni V., additional, Kong, Augustine, additional, Rafnar, Thorunn, additional, Thorsteinsdottir, Unnur, additional, Vogel, Ulla, additional, Kumar, Rajiv, additional, Nagore, Eduardo, additional, Mayordomo, José I., additional, Gudbjartsson, Daniel F., additional, Olafsson, Jon H., additional, and Stefansson, Kari, additional

Published
2015
Full Text
View/download PDF

111. Large-scale whole-genome sequencing of the Icelandic population

Author

Gudbjartsson, Daniel F, primary, Helgason, Hannes, additional, Gudjonsson, Sigurjon A, additional, Zink, Florian, additional, Oddson, Asmundur, additional, Gylfason, Arnaldur, additional, Besenbacher, Soren, additional, Magnusson, Gisli, additional, Halldorsson, Bjarni V, additional, Hjartarson, Eirikur, additional, Sigurdsson, Gunnar Th, additional, Stacey, Simon N, additional, Frigge, Michael L, additional, Holm, Hilma, additional, Saemundsdottir, Jona, additional, Helgadottir, Hafdis Th, additional, Johannsdottir, Hrefna, additional, Sigfusson, Gunnlaugur, additional, Thorgeirsson, Gudmundur, additional, Sverrisson, Jon Th, additional, Gretarsdottir, Solveig, additional, Walters, G Bragi, additional, Rafnar, Thorunn, additional, Thjodleifsson, Bjarni, additional, Bjornsson, Einar S, additional, Olafsson, Sigurdur, additional, Thorarinsdottir, Hildur, additional, Steingrimsdottir, Thora, additional, Gudmundsdottir, Thora S, additional, Theodors, Asgeir, additional, Jonasson, Jon G, additional, Sigurdsson, Asgeir, additional, Bjornsdottir, Gyda, additional, Jonsson, Jon J, additional, Thorarensen, Olafur, additional, Ludvigsson, Petur, additional, Gudbjartsson, Hakon, additional, Eyjolfsson, Gudmundur I, additional, Sigurdardottir, Olof, additional, Olafsson, Isleifur, additional, Arnar, David O, additional, Magnusson, Olafur Th, additional, Kong, Augustine, additional, Masson, Gisli, additional, Thorsteinsdottir, Unnur, additional, Helgason, Agnar, additional, Sulem, Patrick, additional, and Stefansson, Kari, additional

Published
2015
Full Text
View/download PDF

112. Sequence variants from whole genome sequencing a large group of Icelanders

Author

Gudbjartsson, Daniel F, primary, Sulem, Patrick, additional, Helgason, Hannes, additional, Gylfason, Arnaldur, additional, Gudjonsson, Sigurjon A, additional, Zink, Florian, additional, Oddson, Asmundur, additional, Magnusson, Gisli, additional, Halldorsson, Bjarni V, additional, Hjartarson, Eirikur, additional, Sigurdsson, Gunnar Th., additional, Kong, Augustine, additional, Helgason, Agnar, additional, Masson, Gisli, additional, Magnusson, Olafur Th., additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional

Published
2015
Full Text
View/download PDF

114. A loss-of-function variant in ALOX15protects against nasal polyps and chronic rhinosinusitis

Author

Kristjansson, Ragnar P., Benonisdottir, Stefania, Davidsson, Olafur B., Oddsson, Asmundur, Tragante, Vinicius, Sigurdsson, Jon K., Stefansdottir, Lilja, Jonsson, Stefan, Jensson, Brynjar O., Arthur, Joseph G., Arnadottir, Gudny A., Sulem, Gerald, Halldorsson, Bjarni V., Gunnarsson, Bjarni, Halldorsson, Gisli H., Stefansson, Olafur A., Oskarsson, Gudjon R., Deaton, Aimee M., Olafsson, Isleifur, Eyjolfsson, Gudmundur I., Sigurdardottir, Olof, Onundarson, Pall T., Gislason, David, Gislason, Thorarinn, Ludviksson, Bjorn R., Ludviksdottir, Dora, Olafsdottir, Thorunn A., Rafnar, Thorunn, Masson, Gisli, Zink, Florian, Bjornsdottir, Gyda, Magnusson, Olafur Th., Bjornsdottir, Unnur S., Thorleifsson, Gudmar, Norddahl, Gudmundur L., Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Sulem, Patrick, and Stefansson, Kari

Abstract

Nasal polyps (NP) are lesions on the nasal and paranasal sinus mucosa and are a risk factor for chronic rhinosinusitis (CRS). We performed genome-wide association studies on NP and CRS in Iceland and the UK (using UK Biobank data) with 4,366 NP cases, 5,608 CRS cases, and >700,000 controls. We found 10 markers associated with NP and 2 with CRS. We also tested 210 markers reported to associate with eosinophil count, yielding 17 additional NP associations. Of the 27 NP signals, 7 associate with CRS and 13 with asthma. Most notably, a missense variant in ALOX15that causes a p.Thr560Met alteration in arachidonate 15-lipoxygenase (15-LO) confers large genome-wide significant protection against NP (P=8.0 × 10−27, odds ratio = 0.32; 95% confidence interval = 0.26, 0.39) and CRS (P=1.1 × 10−8, odds ratio = 0.64; 95% confidence interval = 0.55, 0.75). p.Thr560Met, carried by around 1 in 20 Europeans, was previously shown to cause near total loss of 15-LO enzymatic activity. Our findings identify 15-LO as a potential target for therapeutic intervention in NP and CRS.

Published
2019
Full Text
View/download PDF

115. Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

Author

Kilpelainen, Tuomas O., Zillikens, M. Carola, Stancakova, Alena, Finucane, Francis M., Ried, Janina S., Langenberg, Claudia, Zhang, Weihua, Beckmann, Jacques S., Luan, Jian'an, Vandenput, Liesbeth, Styrkarsdottir, Unnur, Zhou, Yanhua, Smith, Albert Vernon, Zhao, Jing-Hua, Amin, Najaf, Vedantam, Sailaja, Shin, So-Youn, Haritunians, Talin, Fu, Mao, Feitosa, Mary F., Kumari, Meena, Halldorsson, Bjarni V., Tikkanen, Emmi, Mangino, Massimo, Hayward, Caroline, Song, Ci, Arnold, Alice M., Aulchenko, Yurii S., Oostra, Ben A., Campbell, Harry, Cupples, L. Adrienne, Davis, Kathryn E., Doering, Angela, Eiriksdottir, Gudny, Estrada, Karol, Manuel Fernandez-Real, Jose, Garcia, Melissa, Gieger, Christian, Glazer, Nicole L., Guiducci, Candace, Hofman, Albert, Humphries, Steve E., Isomaa, Bo, Jacobs, Leonie C., Jula, Antti, Karasik, David, Karlsson, Magnus K., Khaw, Kay-Tee, Kim, Lauren J., Kivimaeki, Mika, Klopp, Norman, Kuehnel, Brigitte, Kuusisto, Johanna, Liu, Yongmei, Ljunggren, Östen, Lorentzon, Mattias, Luben, Robert N., McKnight, Barbara, Mellstrom, Dan, Mitchell, Braxton D., Mooser, Vincent, Maria Moreno, Jose, Mannisto, Satu, O'Connell, Jeffery R., Pascoe, Laura, Peltonen, Leena, Peral, Belen, Perola, Markus, Psaty, Bruce M., Salomaa, Veikko, Savage, David B., Semple, Robert K., Skaric-Juric, Tatjana, Sigurdsson, Gunnar, Song, Kijoung S., Spector, Timothy D., Syvänen, Ann-Christine, Talmud, Philippa J., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Uitterlinden, Andre G., van Duijn, Cornelia M., Vidal-Puig, Antonio, Wild, Sarah H., Wright, Alan F., Clegg, Deborah J., Schadt, Eric, Wilson, James F., Rudan, Igor, Ripatti, Samuli, Borecki, Ingrid B., Shuldiner, Alan R., Ingelsson, Erik, Jansson, John-Olov, Kaplan, Robert C., Gudnason, Vilmundur, Harris, Tamara B., Groop, Leif, Kiel, Douglas P., Rivadeneira, Fernando, Walker, Mark, Barroso, Ines, Vollenweider, Peter, Waeber, Gerard, Chambers, John C., Kooner, Jaspal S., Soranzo, Nicole, Hirschhorn, Joel N., Stefansson, Kari, Wichmann, H-Erich, Ohlsson, Claes, O'Rahilly, Stephen, Wareham, Nicholas J., Speliotes, Elizabeth K., Fox, Caroline S., Laakso, Markku, Loos, Ruth J. F., Kilpelainen, Tuomas O., Zillikens, M. Carola, Stancakova, Alena, Finucane, Francis M., Ried, Janina S., Langenberg, Claudia, Zhang, Weihua, Beckmann, Jacques S., Luan, Jian'an, Vandenput, Liesbeth, Styrkarsdottir, Unnur, Zhou, Yanhua, Smith, Albert Vernon, Zhao, Jing-Hua, Amin, Najaf, Vedantam, Sailaja, Shin, So-Youn, Haritunians, Talin, Fu, Mao, Feitosa, Mary F., Kumari, Meena, Halldorsson, Bjarni V., Tikkanen, Emmi, Mangino, Massimo, Hayward, Caroline, Song, Ci, Arnold, Alice M., Aulchenko, Yurii S., Oostra, Ben A., Campbell, Harry, Cupples, L. Adrienne, Davis, Kathryn E., Doering, Angela, Eiriksdottir, Gudny, Estrada, Karol, Manuel Fernandez-Real, Jose, Garcia, Melissa, Gieger, Christian, Glazer, Nicole L., Guiducci, Candace, Hofman, Albert, Humphries, Steve E., Isomaa, Bo, Jacobs, Leonie C., Jula, Antti, Karasik, David, Karlsson, Magnus K., Khaw, Kay-Tee, Kim, Lauren J., Kivimaeki, Mika, Klopp, Norman, Kuehnel, Brigitte, Kuusisto, Johanna, Liu, Yongmei, Ljunggren, Östen, Lorentzon, Mattias, Luben, Robert N., McKnight, Barbara, Mellstrom, Dan, Mitchell, Braxton D., Mooser, Vincent, Maria Moreno, Jose, Mannisto, Satu, O'Connell, Jeffery R., Pascoe, Laura, Peltonen, Leena, Peral, Belen, Perola, Markus, Psaty, Bruce M., Salomaa, Veikko, Savage, David B., Semple, Robert K., Skaric-Juric, Tatjana, Sigurdsson, Gunnar, Song, Kijoung S., Spector, Timothy D., Syvänen, Ann-Christine, Talmud, Philippa J., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Uitterlinden, Andre G., van Duijn, Cornelia M., Vidal-Puig, Antonio, Wild, Sarah H., Wright, Alan F., Clegg, Deborah J., Schadt, Eric, Wilson, James F., Rudan, Igor, Ripatti, Samuli, Borecki, Ingrid B., Shuldiner, Alan R., Ingelsson, Erik, Jansson, John-Olov, Kaplan, Robert C., Gudnason, Vilmundur, Harris, Tamara B., Groop, Leif, Kiel, Douglas P., Rivadeneira, Fernando, Walker, Mark, Barroso, Ines, Vollenweider, Peter, Waeber, Gerard, Chambers, John C., Kooner, Jaspal S., Soranzo, Nicole, Hirschhorn, Joel N., Stefansson, Kari, Wichmann, H-Erich, Ohlsson, Claes, O'Rahilly, Stephen, Wareham, Nicholas J., Speliotes, Elizabeth K., Fox, Caroline S., Laakso, Markku, and Loos, Ruth J. F.

Abstract

Genome-wide association studies have identified 32 loci influencing body mass index, but this measure does not distinguish lean from fat mass. To identify adiposity loci, we meta-analyzed associations between similar to 2.5 million SNPs and body fat percentage from 36,626 individuals and followed up the 14 most significant (P < 10(-6)) independent loci in 39,576 individuals. We confirmed a previously established adiposity locus in FTO (P = 3 x 10(-26)) and identified two new loci associated with body fat percentage, one near IRS1 (P = 4 x 10(-11)) and one near SPRY2 (P = 3 x 10(-8)). Both loci contain genes with potential links to adipocyte physiology. Notably, the body-fat-decreasing allele near IRS1 is associated with decreased IRS1 expression and with an impaired metabolic profile, including an increased visceral to subcutaneous fat ratio, insulin resistance, dyslipidemia, risk of diabetes and coronary artery disease and decreased adiponectin levels. Our findings provide new insights into adiposity and insulin resistance.

Published
2011
Full Text
View/download PDF

116. Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

Author

Oskari Kilpeläinen, Tuomas, Zillikens, M Carola, Stančákova, Alena, Finucane, Francis M, Ried, Janina S, Langenberg, Claudia, Zhang, Weihua, Beckmann, Jacques S, Luan, Jian'an, Vandenput, Liesbeth, Styrkarsdottir, Unnur, Zhou, Yanhua, Smith, Albert Vernon, Zhao, Jing-Hua, Amin, Najaf, Vedantam, Sailaja, Shin, So-Youn, Haritunians, Talin, Fu, Mao, Feitosa, Mary F, Kumari, Meena, Halldorsson, Bjarni V, Tikkanen, Emmi, Mangino, Massimo, Hayward, Caroline, Song, Ci, Arnold, Alice M, Aulchenko, Yurii S, Oostra, Ben A, Campbell, Harry, Cupples, L Adrienne, Davis, Kathryn E, Döring, Angela, Eiriksdottir, Gudny, Estrada, Karol, Fernández-Real, José Manuel, Garcia, Melissa, Gieger, Christian, Glazer, Nicole L, Guiducci, Candace, Hofman, Albert, Humphries, Steve E, Isomaa, Bo, Jacobs, Leonie C, Jula, Antti, Karasik, David, Karlsson, Magnus K, Khaw, Kay-Tee, Kim, Lauren J, Kivimäki, Mika, Klopp, Norman, Kühnel, Brigitte, Kuusisto, Johanna, Liu, Yongmei, Ljunggren, Osten, Lorentzon, Mattias, Luben, Robert N, McKnight, Barbara, Mellström, Dan, Mitchell, Braxton D, Mooser, Vincent, Moreno, José Maria, Männistö, Satu, O'Connell, Jeffery R, Pascoe, Laura, Peltonen, Leena, Peral, Belén, Perola, Markus, Psaty, Bruce M, Salomaa, Veikko, Savage, David B, Semple, Robert K, Skaric-Juric, Tatjana, Sigurdsson, Gunnar, Song, Kijoung S, Spector, Timothy D, Syvänen, Ann-Christine, Talmud, Philippa J, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Uitterlinden, André G, van Duijn, Cornelia M, Vidal-Puig, Antonio, Wild, Sarah H, Wright, Alan F, Clegg, Deborah J, Schadt, Eric, Wilson, James, Rudan, Igor, Ripatti, Samuli, Borecki, Ingrid B, Shuldiner, Alan R, Ingelsson, Erik, Jansson, John-Olov, Kaplan, Robert C, Gudnason, Vilmundur, Harris, Tamara B, Groop, Leif, Kiel, Douglas P, Rivadeneira, Fernando, Walker, Mark, Barroso, Inês, Vollenweider, Peter, Waeber, Gérard, Chambers, John C, Kooner, Jaspal S, Soranzo, Nicole, Hirschhorn, Joel N, Stefansson, Kari, Wichmann, H-Erich, Ohlsson, Claes, O'Rahilly, Stephen, Wareham, Nicholas J, Speliotes, Elizabeth K, Fox, Caroline S, Laakso, Markku, Loos, Ruth J F, Oskari Kilpeläinen, Tuomas, Zillikens, M Carola, Stančákova, Alena, Finucane, Francis M, Ried, Janina S, Langenberg, Claudia, Zhang, Weihua, Beckmann, Jacques S, Luan, Jian'an, Vandenput, Liesbeth, Styrkarsdottir, Unnur, Zhou, Yanhua, Smith, Albert Vernon, Zhao, Jing-Hua, Amin, Najaf, Vedantam, Sailaja, Shin, So-Youn, Haritunians, Talin, Fu, Mao, Feitosa, Mary F, Kumari, Meena, Halldorsson, Bjarni V, Tikkanen, Emmi, Mangino, Massimo, Hayward, Caroline, Song, Ci, Arnold, Alice M, Aulchenko, Yurii S, Oostra, Ben A, Campbell, Harry, Cupples, L Adrienne, Davis, Kathryn E, Döring, Angela, Eiriksdottir, Gudny, Estrada, Karol, Fernández-Real, José Manuel, Garcia, Melissa, Gieger, Christian, Glazer, Nicole L, Guiducci, Candace, Hofman, Albert, Humphries, Steve E, Isomaa, Bo, Jacobs, Leonie C, Jula, Antti, Karasik, David, Karlsson, Magnus K, Khaw, Kay-Tee, Kim, Lauren J, Kivimäki, Mika, Klopp, Norman, Kühnel, Brigitte, Kuusisto, Johanna, Liu, Yongmei, Ljunggren, Osten, Lorentzon, Mattias, Luben, Robert N, McKnight, Barbara, Mellström, Dan, Mitchell, Braxton D, Mooser, Vincent, Moreno, José Maria, Männistö, Satu, O'Connell, Jeffery R, Pascoe, Laura, Peltonen, Leena, Peral, Belén, Perola, Markus, Psaty, Bruce M, Salomaa, Veikko, Savage, David B, Semple, Robert K, Skaric-Juric, Tatjana, Sigurdsson, Gunnar, Song, Kijoung S, Spector, Timothy D, Syvänen, Ann-Christine, Talmud, Philippa J, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Uitterlinden, André G, van Duijn, Cornelia M, Vidal-Puig, Antonio, Wild, Sarah H, Wright, Alan F, Clegg, Deborah J, Schadt, Eric, Wilson, James, Rudan, Igor, Ripatti, Samuli, Borecki, Ingrid B, Shuldiner, Alan R, Ingelsson, Erik, Jansson, John-Olov, Kaplan, Robert C, Gudnason, Vilmundur, Harris, Tamara B, Groop, Leif, Kiel, Douglas P, Rivadeneira, Fernando, Walker, Mark, Barroso, Inês, Vollenweider, Peter, Waeber, Gérard, Chambers, John C, Kooner, Jaspal S, Soranzo, Nicole, Hirschhorn, Joel N, Stefansson, Kari, Wichmann, H-Erich, Ohlsson, Claes, O'Rahilly, Stephen, Wareham, Nicholas J, Speliotes, Elizabeth K, Fox, Caroline S, Laakso, Markku, and Loos, Ruth J F

Abstract

Genome-wide association studies have identified 32 loci influencing body mass index, but this measure does not distinguish lean from fat mass. To identify adiposity loci, we meta-analyzed associations between ∼2.5 million SNPs and body fat percentage from 36,626 individuals and followed up the 14 most significant (P <10(-6)) independent loci in 39,576 individuals. We confirmed a previously established adiposity locus in FTO (P = 3 × 10(-26)) and identified two new loci associated with body fat percentage, one near IRS1 (P = 4 × 10(-11)) and one near SPRY2 (P = 3 × 10(-8)). Both loci contain genes with potential links to adipocyte physiology. Notably, the body-fat-decreasing allele near IRS1 is associated with decreased IRS1 expression and with an impaired metabolic profile, including an increased visceral to subcutaneous fat ratio, insulin resistance, dyslipidemia, risk of diabetes and coronary artery disease and decreased adiponectin levels. Our findings provide new insights into adiposity and insulin resistance.

Published
2011

117. Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus.

Author

Stacey, Simon N, Sulem, Patrick, Zanon, Carlo, Gudjonsson, Sigurjon A, Thorleifsson, Gudmar, Helgason, Agnar, Jonasdottir, Aslaug, Besenbacher, Soren, Kostic, Jelena P, Fackenthal, James D, Huo, Dezheng, Adebamowo, Clement, Ogundiran, Temidayo, Olson, Janet E, Fredericksen, Zachary S, Wang, Xianshu, Look, Maxime P, Sieuwerts, Anieta M, Martens, John W M, Pajares, Isabel, Garcia-Prats, Maria D, Ramon-Cajal, Jose M, de Juan, Ana, Panadero, Angeles, Ortega, Eugenia, Aben, Katja K H, Vermeulen, Sita H, Asadzadeh, Fatemeh, van Engelenburg, K C Anton, Margolin, Sara, Shen, Chen-Yang, Wu, Pei-Ei, Försti, Asta, Lenner, Per, Henriksson, Roger, Johansson, Robert, Enquist, Kerstin, Hallmans, Göran, Jonsson, Thorvaldur, Sigurdsson, Helgi, Alexiusdottir, Kristin, Gudmundsson, Julius, Sigurdsson, Asgeir, Frigge, Michael L, Gudmundsson, Larus, Kristjansson, Kristleifur, Halldorsson, Bjarni V, Styrkarsdottir, Unnur, Gulcher, Jeffrey R, Hemminki, Kari, Lindblom, Annika, Kiemeney, Lambertus A, Mayordomo, Jose I, Foekens, John A, Couch, Fergus J, Olopade, Olufunmilayo I, Gudbjartsson, Daniel F, Thorsteinsdottir, Unnur, Rafnar, Thorunn, Johannsson, Oskar T, Stefansson, Kari, Stacey, Simon N, Sulem, Patrick, Zanon, Carlo, Gudjonsson, Sigurjon A, Thorleifsson, Gudmar, Helgason, Agnar, Jonasdottir, Aslaug, Besenbacher, Soren, Kostic, Jelena P, Fackenthal, James D, Huo, Dezheng, Adebamowo, Clement, Ogundiran, Temidayo, Olson, Janet E, Fredericksen, Zachary S, Wang, Xianshu, Look, Maxime P, Sieuwerts, Anieta M, Martens, John W M, Pajares, Isabel, Garcia-Prats, Maria D, Ramon-Cajal, Jose M, de Juan, Ana, Panadero, Angeles, Ortega, Eugenia, Aben, Katja K H, Vermeulen, Sita H, Asadzadeh, Fatemeh, van Engelenburg, K C Anton, Margolin, Sara, Shen, Chen-Yang, Wu, Pei-Ei, Försti, Asta, Lenner, Per, Henriksson, Roger, Johansson, Robert, Enquist, Kerstin, Hallmans, Göran, Jonsson, Thorvaldur, Sigurdsson, Helgi, Alexiusdottir, Kristin, Gudmundsson, Julius, Sigurdsson, Asgeir, Frigge, Michael L, Gudmundsson, Larus, Kristjansson, Kristleifur, Halldorsson, Bjarni V, Styrkarsdottir, Unnur, Gulcher, Jeffrey R, Hemminki, Kari, Lindblom, Annika, Kiemeney, Lambertus A, Mayordomo, Jose I, Foekens, John A, Couch, Fergus J, Olopade, Olufunmilayo I, Gudbjartsson, Daniel F, Thorsteinsdottir, Unnur, Rafnar, Thorunn, Johannsson, Oskar T, and Stefansson, Kari

Abstract

We used an approach that we term ancestry-shift refinement mapping to investigate an association, originally discovered in a GWAS of a Chinese population, between rs2046210[T] and breast cancer susceptibility. The locus is on 6q25.1 in proximity to the C6orf97 and estrogen receptor alpha (ESR1) genes. We identified a panel of SNPs that are correlated with rs2046210 in Chinese, but not necessarily so in other ancestral populations, and genotyped them in breast cancer case:control samples of Asian, European, and African origin, a total of 10,176 cases and 13,286 controls. We found that rs2046210[T] does not confer substantial risk of breast cancer in Europeans and Africans (OR = 1.04, P = 0.099, and OR = 0.98, P = 0.77, respectively). Rather, in those ancestries, an association signal arises from a group of less common SNPs typified by rs9397435. The rs9397435[G] allele was found to confer risk of breast cancer in European (OR = 1.15, P = 1.2 x 10(-3)), African (OR = 1.35, P = 0.014), and Asian (OR = 1.23, P = 2.9 x 10(-4)) population samples. Combined over all ancestries, the OR was 1.19 (P = 3.9 x 10(-7)), was without significant heterogeneity between ancestries (P(het) = 0.36) and the SNP fully accounted for the association signal in each ancestry. Haplotypes bearing rs9397435[G] are well tagged by rs2046210[T] only in Asians. The rs9397435[G] allele showed associations with both estrogen receptor positive and estrogen receptor negative breast cancer. Using early-draft data from the 1,000 Genomes project, we found that the risk allele of a novel SNP (rs77275268), which is closely correlated with rs9397435, disrupts a partially methylated CpG sequence within a known CTCF binding site. These studies demonstrate that shifting the analysis among ancestral populations can provide valuable resolution in association mapping.

Published
2010
Full Text
View/download PDF

118. Many sequence variants affecting diversity of adult human height

Author

Gudbjartsson, Daniel F, Walters, G Bragi, Thorleifsson, Gudmar, Stefansson, Hreinn, Halldorsson, Bjarni V, Zusmanovich, Pasha, Sulem, Patrick, Thorlacius, Steinunn, Gylfason, Arnaldur, Steinberg, Stacy, Helgadottir, Anna, Ingason, Andres, Steinthorsdottir, Valgerdur, Olafsdottir, Elinborg J, Olafsdottir, Gudridur H, Jonsson, Thorvaldur, Borch-Johnsen, Knut, Hansen, Torben, Andersen, Gitte, Jørgensen, Torben, Pedersen, Oluf, Aben, Katja K, Witjes, J Alfred, Swinkels, Dorine W, den Heijer, Martin, Franke, Barbara, Verbeek, Andre L M, Becker, Diane M, Yanek, Lisa R, Becker, Lewis C, Tryggvadottir, Laufey, Rafnar, Thorunn, Gulcher, Jeffrey, Kiemeney, Lambertus A, Kong, Augustine, Thorsteinsdottir, Unnur, Stefansson, Kari, Gudbjartsson, Daniel F, Walters, G Bragi, Thorleifsson, Gudmar, Stefansson, Hreinn, Halldorsson, Bjarni V, Zusmanovich, Pasha, Sulem, Patrick, Thorlacius, Steinunn, Gylfason, Arnaldur, Steinberg, Stacy, Helgadottir, Anna, Ingason, Andres, Steinthorsdottir, Valgerdur, Olafsdottir, Elinborg J, Olafsdottir, Gudridur H, Jonsson, Thorvaldur, Borch-Johnsen, Knut, Hansen, Torben, Andersen, Gitte, Jørgensen, Torben, Pedersen, Oluf, Aben, Katja K, Witjes, J Alfred, Swinkels, Dorine W, den Heijer, Martin, Franke, Barbara, Verbeek, Andre L M, Becker, Diane M, Yanek, Lisa R, Becker, Lewis C, Tryggvadottir, Laufey, Rafnar, Thorunn, Gulcher, Jeffrey, Kiemeney, Lambertus A, Kong, Augustine, Thorsteinsdottir, Unnur, and Stefansson, Kari

Abstract

Udgivelsesdato: 2008-May, Adult human height is one of the classical complex human traits. We searched for sequence variants that affect height by scanning the genomes of 25,174 Icelanders, 2,876 Dutch, 1,770 European Americans and 1,148 African Americans. We then combined these results with previously published results from the Diabetes Genetics Initiative on 3,024 Scandinavians and tested a selected subset of SNPs in 5,517 Danes. We identified 27 regions of the genome with one or more sequence variants showing significant association with height. The estimated effects per allele of these variants ranged between 0.3 and 0.6 cm and, taken together, they explain around 3.7% of the population variation in height. The genes neighboring the identified loci cluster in biological processes related to skeletal development and mitosis. Association to three previously reported loci are replicated in our analyses, and the strongest association was with SNPs in the ZBTB38 gene.

Published
2008

121. Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

Author

Kilpeläinen, Tuomas O, primary, Zillikens, M Carola, additional, Stančákova, Alena, additional, Finucane, Francis M, additional, Ried, Janina S, additional, Langenberg, Claudia, additional, Zhang, Weihua, additional, Beckmann, Jacques S, additional, Luan, Jian'an, additional, Vandenput, Liesbeth, additional, Styrkarsdottir, Unnur, additional, Zhou, Yanhua, additional, Smith, Albert Vernon, additional, Zhao, Jing-Hua, additional, Amin, Najaf, additional, Vedantam, Sailaja, additional, Shin, So-Youn, additional, Haritunians, Talin, additional, Fu, Mao, additional, Feitosa, Mary F, additional, Kumari, Meena, additional, Halldorsson, Bjarni V, additional, Tikkanen, Emmi, additional, Mangino, Massimo, additional, Hayward, Caroline, additional, Song, Ci, additional, Arnold, Alice M, additional, Aulchenko, Yurii S, additional, Oostra, Ben A, additional, Campbell, Harry, additional, Cupples, L Adrienne, additional, Davis, Kathryn E, additional, Döring, Angela, additional, Eiriksdottir, Gudny, additional, Estrada, Karol, additional, Fernández-Real, José Manuel, additional, Garcia, Melissa, additional, Gieger, Christian, additional, Glazer, Nicole L, additional, Guiducci, Candace, additional, Hofman, Albert, additional, Humphries, Steve E, additional, Isomaa, Bo, additional, Jacobs, Leonie C, additional, Jula, Antti, additional, Karasik, David, additional, Karlsson, Magnus K, additional, Khaw, Kay-Tee, additional, Kim, Lauren J, additional, Kivimäki, Mika, additional, Klopp, Norman, additional, Kühnel, Brigitte, additional, Kuusisto, Johanna, additional, Liu, Yongmei, additional, Ljunggren, Östen, additional, Lorentzon, Mattias, additional, Luben, Robert N, additional, McKnight, Barbara, additional, Mellström, Dan, additional, Mitchell, Braxton D, additional, Mooser, Vincent, additional, Moreno, José Maria, additional, Männistö, Satu, additional, O'Connell, Jeffery R, additional, Pascoe, Laura, additional, Peltonen, Leena, additional, Peral, Belén, additional, Perola, Markus, additional, Psaty, Bruce M, additional, Salomaa, Veikko, additional, Savage, David B, additional, Semple, Robert K, additional, Skaric-Juric, Tatjana, additional, Sigurdsson, Gunnar, additional, Song, Kijoung S, additional, Spector, Timothy D, additional, Syvänen, Ann-Christine, additional, Talmud, Philippa J, additional, Thorleifsson, Gudmar, additional, Thorsteinsdottir, Unnur, additional, Uitterlinden, André G, additional, van Duijn, Cornelia M, additional, Vidal-Puig, Antonio, additional, Wild, Sarah H, additional, Wright, Alan F, additional, Clegg, Deborah J, additional, Schadt, Eric, additional, Wilson, James F, additional, Rudan, Igor, additional, Ripatti, Samuli, additional, Borecki, Ingrid B, additional, Shuldiner, Alan R, additional, Ingelsson, Erik, additional, Jansson, John-Olov, additional, Kaplan, Robert C, additional, Gudnason, Vilmundur, additional, Harris, Tamara B, additional, Groop, Leif, additional, Kiel, Douglas P, additional, Rivadeneira, Fernando, additional, Walker, Mark, additional, Barroso, Inês, additional, Vollenweider, Peter, additional, Waeber, Gérard, additional, Chambers, John C, additional, Kooner, Jaspal S, additional, Soranzo, Nicole, additional, Hirschhorn, Joel N, additional, Stefansson, Kari, additional, Wichmann, H-Erich, additional, Ohlsson, Claes, additional, O'Rahilly, Stephen, additional, Wareham, Nicholas J, additional, Speliotes, Elizabeth K, additional, Fox, Caroline S, additional, Laakso, Markku, additional, and Loos, Ruth J F, additional

Published
2011
Full Text
View/download PDF

122. European Bone Mineral Density Loci Are Also Associated with BMD in East-Asian Populations

Author

Styrkarsdottir, Unnur, primary, Halldorsson, Bjarni V., additional, Gudbjartsson, Daniel F., additional, Tang, Nelson L. S., additional, Koh, Jung-Min, additional, Xiao, Su-mei, additional, Kwok, Timothy C. Y., additional, Kim, Ghi Su, additional, Chan, Juliana C. N., additional, Cherny, Stacey, additional, Lee, Seung Hun, additional, Kwok, Anthony, additional, Ho, Suzanne, additional, Gretarsdottir, Solveig, additional, Pop Kostic, Jelena, additional, Palsson, Stefan Th., additional, Sigurdsson, Gunnar, additional, Sham, Pak C., additional, Kim, Beom-Jun, additional, Kung, Annie W. C., additional, Kim, Shin-Yoon, additional, Woo, Jean, additional, Leung, Ping-C., additional, Kong, Augustine, additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional

Published
2010
Full Text
View/download PDF

123. Ancestry-Shift Refinement Mapping of the C6orf97-ESR1 Breast Cancer Susceptibility Locus

Author

Stacey, Simon N., primary, Sulem, Patrick, additional, Zanon, Carlo, additional, Gudjonsson, Sigurjon A., additional, Thorleifsson, Gudmar, additional, Helgason, Agnar, additional, Jonasdottir, Aslaug, additional, Besenbacher, Soren, additional, Kostic, Jelena P., additional, Fackenthal, James D., additional, Huo, Dezheng, additional, Adebamowo, Clement, additional, Ogundiran, Temidayo, additional, Olson, Janet E., additional, Fredericksen, Zachary S., additional, Wang, Xianshu, additional, Look, Maxime P., additional, Sieuwerts, Anieta M., additional, Martens, John W. M., additional, Pajares, Isabel, additional, Garcia-Prats, Maria D., additional, Ramon-Cajal, Jose M., additional, de Juan, Ana, additional, Panadero, Angeles, additional, Ortega, Eugenia, additional, Aben, Katja K. H., additional, Vermeulen, Sita H., additional, Asadzadeh, Fatemeh, additional, van Engelenburg, K. C. Anton, additional, Margolin, Sara, additional, Shen, Chen-Yang, additional, Wu, Pei-Ei, additional, Försti, Asta, additional, Lenner, Per, additional, Henriksson, Roger, additional, Johansson, Robert, additional, Enquist, Kerstin, additional, Hallmans, Göran, additional, Jonsson, Thorvaldur, additional, Sigurdsson, Helgi, additional, Alexiusdottir, Kristin, additional, Gudmundsson, Julius, additional, Sigurdsson, Asgeir, additional, Frigge, Michael L., additional, Gudmundsson, Larus, additional, Kristjansson, Kristleifur, additional, Halldorsson, Bjarni V., additional, Styrkarsdottir, Unnur, additional, Gulcher, Jeffrey R., additional, Hemminki, Kari, additional, Lindblom, Annika, additional, Kiemeney, Lambertus A., additional, Mayordomo, Jose I., additional, Foekens, John A., additional, Couch, Fergus J., additional, Olopade, Olufunmilayo I., additional, Gudbjartsson, Daniel F., additional, Thorsteinsdottir, Unnur, additional, Rafnar, Thorunn, additional, Johannsson, Oskar T., additional, and Stefansson, Kari, additional

Published
2010
Full Text
View/download PDF

124. Corrigendum to “A genome-wide association study identifies a common variant near the GPR22 gene as a new locus involved in prevalence and progression of osteoarthritis” [Bone. 44S2 (2009) S224]

Author

Kerkhof, Hanneke J.M., primary, Lories, Rik J., additional, Meulenbelt, Ingrid, additional, Jonsdottir, Ingileif, additional, Valdes, Ana M., additional, Arp, Pascal, additional, Ingvarsson, Thorvaldur, additional, Jhamai, Mila, additional, Jonsson, Helgi, additional, Stolk, Lisette, additional, Thorleifsson, Gudmar, additional, Zhai, Guangju, additional, Zhang, Feng, additional, Zhu, Yanyan, additional, van der Breggen, Ruud, additional, Carr, Andrew, additional, Doherty, Michael, additional, Doherty, Sally, additional, Felson, David T., additional, Gonzalez, Antonio, additional, Halldorsson, Bjarni V., additional, Hart, Deborah J., additional, Hauksson, Valdimar B., additional, Hofman, Albert, additional, Ioannidis, John P.A., additional, Kloppenburg, Margreet, additional, Lane, Nancy E., additional, Loughlin, John, additional, Luyten, Frank P., additional, Nevitt, Michael C., additional, Parimi, Neeta, additional, Pols, Huibert A.P., additional, van de Putte, Tom, additional, Rivadeneira, Fernando, additional, Slagboom, Eline P., additional, Styrkársdóttir, Unnur, additional, Tsezou, Aspasia, additional, Zmuda, Joseph, additional, Spector, Tim D., additional, Stefansson, Kari, additional, Uitterlinden, André G., additional, and van Meurs, Joyce B.J., additional

Published
2010
Full Text
View/download PDF

125. A genome-wide association study identifies a locus on chromosome 7q22 to influence susceptibility for osteoarthritis

Author

Kerkhof, Hanneke J.M., primary, Lories, Rik J., additional, Meulenbelt, Ingrid, additional, Jonsdottir, Ingileif, additional, Valdes, Ana M, additional, Arp, Pascal, additional, Ingvarsson, Thorvaldur, additional, Jhamai, Mila, additional, Jonsson, Helgi, additional, Stolk, Lisette, additional, Thorleifsson, Gudmar, additional, Zhai, Guangju, additional, Zhang, Feng, additional, Zhu, Yanyan, additional, van der Breggen, Ruud, additional, Carr, Andrew, additional, Doherty, Michael, additional, Doherty, Sally, additional, Felson, David T., additional, Gonzalez, Antonio, additional, Halldorsson, Bjarni V., additional, Hart, Deborah J., additional, Hauksson, Valdimar B., additional, Hofman, Albert, additional, Ioannidis, John P.A., additional, Kloppenburg, Margreet, additional, Lane, Nancy E., additional, Loughlin, John, additional, Luyten, Frank P., additional, Nevitt, Michael C., additional, Parimi, Neeta, additional, Pols, Huibert A.P., additional, van de Putte, Tom, additional, Rivadeneira, Fernando, additional, Slagboom, Eline P., additional, Styrkársdóttir, Unnur, additional, Tsezou, Aspasia, additional, Zmuda, Joseph, additional, Spector, Tim D., additional, Stefansson, Kari, additional, Uitterlinden, André G., additional, and van Meurs, Joyce B.J., additional

Published
2010
Full Text
View/download PDF

127. Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density

Author

Thorleifsson, Gudmar, primary, Holm, Hilma, additional, Edvardsson, Vidar, additional, Walters, G Bragi, additional, Styrkarsdottir, Unnur, additional, Gudbjartsson, Daniel F, additional, Sulem, Patrick, additional, Halldorsson, Bjarni V, additional, de Vegt, Femmie, additional, d'Ancona, Frank C H, additional, den Heijer, Martin, additional, Franzson, Leifur, additional, Christiansen, Claus, additional, Alexandersen, Peter, additional, Rafnar, Thorunn, additional, Kristjansson, Kristleifur, additional, Sigurdsson, Gunnar, additional, Kiemeney, Lambertus A, additional, Bodvarsson, Magnus, additional, Indridason, Olafur S, additional, Palsson, Runolfur, additional, Kong, Augustine, additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional

Published
2009
Full Text
View/download PDF

128. Large-scale analysis of association betweenGDF5andFRZBvariants and osteoarthritis of the hip, knee, and hand

Author

Evangelou, Evangelos, primary, Chapman, Kay, additional, Meulenbelt, Ingrid, additional, Karassa, Fotini B., additional, Loughlin, John, additional, Carr, Andrew, additional, Doherty, Michael, additional, Doherty, Sally, additional, Gómez-Reino, Juan J., additional, Gonzalez, Antonio, additional, Halldorsson, Bjarni V., additional, Hauksson, Valdimar B., additional, Hofman, Albert, additional, Hart, Deborah J., additional, Ikegawa, Shiro, additional, Ingvarsson, Thorvaldur, additional, Jiang, Qing, additional, Jonsdottir, Ingileif, additional, Jonsson, Helgi, additional, Kerkhof, Hanneke J. M., additional, Kloppenburg, Margreet, additional, Lane, Nancy E., additional, Li, Jia, additional, Lories, Rik J., additional, van Meurs, Joyce B. J., additional, Näkki, Annu, additional, Nevitt, Michael C., additional, Rodriguez-Lopez, Julio, additional, Shi, Dongquan, additional, Slagboom, P. Eline, additional, Stefansson, Kari, additional, Tsezou, Aspasia, additional, Wallis, Gillian A., additional, Watson, Christopher M., additional, Spector, Tim D., additional, Uitterlinden, Andre G., additional, Valdes, Ana M., additional, and Ioannidis, John P. A., additional

Published
2009
Full Text
View/download PDF

129. New sequence variants associated with bone mineral density

Author

Styrkarsdottir, Unnur, primary, Halldorsson, Bjarni V, additional, Gretarsdottir, Solveig, additional, Gudbjartsson, Daniel F, additional, Walters, G Bragi, additional, Ingvarsson, Thorvaldur, additional, Jonsdottir, Thorbjorg, additional, Saemundsdottir, Jona, additional, Snorradóttir, Steinunn, additional, Center, Jacqueline R, additional, Nguyen, Tuan V, additional, Alexandersen, Peter, additional, Gulcher, Jeffrey R, additional, Eisman, John A, additional, Christiansen, Claus, additional, Sigurdsson, Gunnar, additional, Kong, Augustine, additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional

Published
2008
Full Text
View/download PDF

131. Many sequence variants affecting diversity of adult human height

Author

Gudbjartsson, Daniel F, primary, Walters, G Bragi, additional, Thorleifsson, Gudmar, additional, Stefansson, Hreinn, additional, Halldorsson, Bjarni V, additional, Zusmanovich, Pasha, additional, Sulem, Patrick, additional, Thorlacius, Steinunn, additional, Gylfason, Arnaldur, additional, Steinberg, Stacy, additional, Helgadottir, Anna, additional, Ingason, Andres, additional, Steinthorsdottir, Valgerdur, additional, Olafsdottir, Elinborg J, additional, Olafsdottir, Gudridur H, additional, Jonsson, Thorvaldur, additional, Borch-Johnsen, Knut, additional, Hansen, Torben, additional, Andersen, Gitte, additional, Jorgensen, Torben, additional, Pedersen, Oluf, additional, Aben, Katja K, additional, Witjes, J Alfred, additional, Swinkels, Dorine W, additional, Heijer, Martin den, additional, Franke, Barbara, additional, Verbeek, Andre L M, additional, Becker, Diane M, additional, Yanek, Lisa R, additional, Becker, Lewis C, additional, Tryggvadottir, Laufey, additional, Rafnar, Thorunn, additional, Gulcher, Jeffrey, additional, Kiemeney, Lambertus A, additional, Kong, Augustine, additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional

Published
2008
Full Text
View/download PDF

132. Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer.

Author

Stacey, Simon N., Kehr, Birte, Gudmundsson, Julius, FlorianZink, Jonasdottir, Aslaug, Gudjonsson, Sigurjon A., Sigurdsson, Asgeir, Halldorsson, Bjarni V., Agnarsson, Bjarni A., Benediktsdottir, Kristrun R., Aben, Katja K. H., Vermeulen, Sita H., Cremers, Ruben G., Panadero, Angeles, Helfand, Brian T., Cooper, Phillip R., Donovan, Jenny L., Hamdy, Freddie C., Jinga, Viorel, and Ichiro Okamoto

Published
2016
Full Text
View/download PDF

133. Simultaneous inference of haplotypes and alleles at a causal gene.

Author

Larribe, Fabrice, Dupont, Mathieu J., Boucher, Gabrielle, Halldorsson, Bjarni V., and Tian-Qing Zheng

Subjects
HAPLOTYPES, ALLELES, GENE mapping
Abstract

We present a methodology which jointly infers haplotypes and the causal alleles at a gene influencing a given trait. Often in human genetic studies, the available data consists of genotypes (series of genetic markers along the chromosomes) and a phenotype. However, for many genetic analyses, one needs haplotypes instead of genotypes. Our methodology is not only able to estimate haplotypes conditionally on the disease status, but is also able to infer the alleles at the unknown disease locus. Some applications of our methodology are in genetic mapping and in genetic counseling. [ABSTRACT FROM AUTHOR]

Published
2015
Full Text
View/download PDF

134. Estrogen Receptor Genotypes and Haplotypes Associated with Breast Cancer Risk

Author

Gold, Bert, primary, Kalush, Francis, additional, Bergeron, Julie, additional, Scott, Kevin, additional, Mitra, Nandita, additional, Wilson, Kelly, additional, Ellis, Nathan, additional, Huang, Helen, additional, Chen, Michael, additional, Lippert, Ross, additional, Halldorsson, Bjarni V., additional, Woodworth, Beth, additional, White, Thomas, additional, Clark, Andrew G., additional, Parl, Fritz F., additional, Broder, Samuel, additional, Dean, Michael, additional, and Offit, Kenneth, additional

Published
2004
Full Text
View/download PDF

137. New sequence variants associated with bone mineral density.

Author

Styrkarsdottir, Unnur, Halldorsson, Bjarni V., Gretarsdottir, Solveig, Gudbjartsson, Daniel F., Walters, G. Bragi, Ingvarsson, Thorvaldur, Jonsdottir, Thorbjorg, Saemundsdottir, Jona, Snorradóttir, Steinunn, Center, Jacqueline R., Nguyen, Tuan V., Alexandersen, Peter, Gulcher, Jeffrey R., Eisman, John A., Christiansen, Claus, Sigurdsson, Gunnar, Kong, Augustine, Thorsteinsdottir, Unnur, and Stefansson, Kari

Subjects
*BONE density, *HERITABILITY, *GENOMES, *OSTEOPOROSIS, *ICELANDERS
Abstract

In an extended genome-wide association study of bone mineral density among 6,865 Icelanders and a follow-up in 8,510 subjects of European descent, we identified four new genome-wide significant loci. These are near the SOST gene at 17q21, the MARK3 gene at 14q32, the SP7 gene at 12q13 and the TNFRSF11A (RANK) gene at 18q21. Furthermore, nonsynonymous SNPs in the C17orf53, LRP4, ADAM19 and IBSP genes were suggestively associated with bone density. [ABSTRACT FROM AUTHOR]

Published
2009
Full Text
View/download PDF

138. Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences

Author

Karlsson Linnér, Richard, Biroli, Pietro, Kong, Edward, Meddens, S. Fleur W., Wedow, Robbee, Fontana, Mark Alan, Lebreton, Maël, Tino, Stephen P., Abdellaoui, Abdel, Hammerschlag, Anke R., Nivard, Michel G., Okbay, Aysu, Rietveld, Cornelius A., Timshel, Pascal N., Trzaskowski, Maciej, Vlaming, Ronald de, Zünd, Christian L., Bao, Yanchun, Buzdugan, Laura, Caplin, Ann H., Chen, Chia-Yen, Eibich, Peter, Fontanillas, Pierre, Gonzalez, Juan R., Joshi, Peter K., Karhunen, Ville, Kleinman, Aaron, Levin, Remy Z., Lill, Christina M., Meddens, Gerardus A., Muntané, Gerard, Sanchez-Roige, Sandra, Rooij, Frank J. van, Taskesen, Erdogan, Yang, Wu, Zhang, Futao, Agee, Michelle, Alipanahi, Babak, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Furlotte, Nicholas A., Huber, Karen E., Litterman, Nadia K., Mccreight, Jennifer C., Mcintyre, Matthew H., Mountain, Joanna L., Northover, Carrie A. M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Wilson, Catherine H., Agbessi, Mawussé, Ahsan, Habibul, Alves, Isabel, Andiappan, Anand, Awadalla, Philip, Battle, Alexis, Beutner, Frank, Jan Bonder, Marc, Boomsma, Dorret I., Christiansen, Mark, Claringbould, Annique, Deelen, Patrick, Esko, Tõnu, Favé, Marie-Julie, Franke, Lude, Frayling, Timothy, Gharib, Sina A., Gibson, Gregory, Heijmans, Bastiaan, Hemani, Gibran, Jansen, Rick, Kähönen, Mika, Kalnapenkis, Anette, Kasela, Silva, Kettunen, Johannes, Kim, Yungil, Kirsten, Holger, Kovacs, Peter, Krohn, Knut, Kronberg-Guzman, Jaanika, Kukushkina, Viktorija, Kutalik, Zoltan, Lee, Bernett, Lehtimäki, Terho, Loeffler, Markus, Marigorta, Urko M., Metspalu, Andres, Milani, Lili, Montgomery, Grant W., Müller-Nurasyid, Martina, Nauck, Matthias, Penninx, Brenda, Perola, Markus, Pervjakova, Natalia, Pierce, Brandon, Powell, Joseph, Prokisch, Holger, Psaty, Bruce M., Raitakari, Olli, Ring, Susan, Ripatti, Samuli, Rotzchke, Olaf, Rüeger, Sina, Saha, Ashis, Scholz, Markus, Schramm, Katharina, Seppälä, Ilkka, Stumvoll, Michael, Sullivan, Patrick, Hoen, Peter-Bram t, Teumer, Alexander, Thiery, Joachim, Tong, Lin, Tönjes, Anke, Dongen, Jenny van, Meurs, Joyce van, Verlouw, Joost, Visscher, Peter M., Völker, Uwe, Võsa, Urmo, Westra, Harm-Jan, Yaghootkar, Hanieh, Yang, Jian, Zeng, Biao, Beauchamp, Jonathan P., Lee, James J., Pers, Tune H., Turley, Patrick, Chen, Guo-Bo, Emilsson, Valur, Oskarsson, Sven, Pickrell, Joseph K., Thom, Kevin, Timshel, Pascal, de Vlaming, Ronald, Ahluwalia, Tarunveer S., Bacelis, Jonas, Baumbach, Clemens, Bjornsdottir, Gyda, Brandsma, Johannes H., Concas, Maria Pina, Derringer, Jaime, Galesloot, Tessel E., Girotto, Giorgia, Gupta, Richa, Hall, Leanne M., Harris, Sarah E., Hofer, Edith, Horikoshi, Momoko, Huffman, Jennifer E., Kaasik, Kadri, Kalafati, Ioanna P., Karlsson, Robert, Kong, Augustine, Lahti, Jari, Lee, Sven J. van der, de Leeuw, Christiaan, Lind, Penelope A., Lindgren, Karl-Oskar, Liu, Tian, Mangino, Massimo, Marten, Jonathan, Mihailov, Evelin, Miller, Michael B., Most, Peter J. van der, Oldmeadow, Christopher, Payton, Antony, Peyrot, Wouter J., Qian, Yong, Rueedi, Rico, Salvi, Erika, Schmidt, Börge, Schraut, Katharina E., Shi, Jianxin, Smith, Albert V., Poot, Raymond A., Pourcain, Beate St, Thorleifsson, Gudmar, Verweij, Niek, Vuckovic, Dragana, Wellmann, Juergen, Yang, Jingyun, Zhao, Wei, Zhu, Zhihong, Alizadeh, Behrooz Z., Amin, Najaf, Bakshi, Andrew, Baumeister, Sebastian E., Biino, Ginevra, Bønnelykke, Klaus, Boyle, Patricia A., Campbell, Harry, Cappuccio, Francesco P., Davies, Gail, De Neve, Jan-Emmanuel, Deloukas, Panos, Demuth, Ilja, Ding, Jun, Eisele, Lewin, Eklund, Niina, Evans, David M., Faul, Jessica D., Feitosa, Mary F., Forstner, Andreas J., Gandin, Ilaria, Gunnarsson, Bjarni, Halldórsson, Bjarni V., Harris, Tamara B., Heath, Andrew C., Hocking, Lynne J., Holliday, Elizabeth G., Homuth, Georg, Horan, Michael A., Hottenga, Jouke-Jan, de Jager, Philip L., Jugessur, Astanand, Kaakinen, Marika A., Kanoni, Stavroula, Keltigangas-Järvinen, Liisa, Kiemeney, Lambertus A. L. M., Kolcic, Ivana, Koskinen, Seppo, Kraja, Aldi T., Kroh, Martin, Latvala, Antti, Launer, Lenore J., Lebreton, Maël P., Levinson, Douglas F., Lichtenstein, Paul, Lichtner, Peter, Liewald, David C. M., Loukola, Anu, Madden, Pamela A., Mägi, Reedik, Mäki-Opas, Tomi, Marioni, Riccardo E., Marques-Vidal, Pedro, Mcmahon, George, Meisinger, Christa, Meitinger, Thomas, Milaneschi, Yusplitri, Myhre, Ronny, Nelson, Christopher P., Nyholt, Dale R., Ollier, William E. R., Palotie, Aarno, Paternoster, Lavinia, Pedersen, Nancy L., Petrovic, Katja E., Porteous, David J., Räikkönen, Katri, Ring, Susan M., Robino, Antonietta, Rostapshova, Olga, Rudan, Igor, Rustichini, Aldo, Salomaa, Veikko, Sanders, Alan R., Sarin, Antti-Pekka, Schmidt, Helena, Scott, Rodney J., Smith, Blair H., Smith, Jennifer A., Staessen, Jan A., Steinhagen-Thiessen, Elisabeth, Strauch, Konstantin, Terracciano, Antonio, Tobin, Martin D., Ulivi, Sheila, Vaccargiu, Simona, Quaye, Lydia, Venturini, Cristina, Vinkhuyzen, Anna A. E., Völzke, Henry, Vonk, Judith M., Vozzi, Diego, Waage, Johannes, Ware, Erin B., Willemsen, Gonneke, Attia, John R., Bennett, David A., Berger, Klaus, Bertram, Lars, Bisgaard, Hans, Borecki, Ingrid B, Bültmann, Ute, Chabris, Christopher F., Cucca, Francesco, Cusi, Daniele, Deary, Ian J., Dedoussis, George V., Duijn, Cornelia M. van, Eriksson, Johan G., Franke, Barbara, Gasparini, Paolo, Gejman, Pablo V., Gieger, Christian, Grabe, Hans-Jörgen, Gratten, Jacob, Groenen, Patrick J. F., Gudnason, Vilmundur, Harst, Pim van der, Hayward, Caroline, Hinds, David A., Hoffmann, Wolfgang, Hyppönen, Elina, Iacono, William G., Jacobsson, Bo, Järvelin, Marjo-Riitta, Jöckel, Karl-Heinz, Kaprio, Jaakko, Kardia, Sharon L. R., Lehrer, Steven F., Magnusson, Patrik K. E., Martin, Nicholas G., Mcgue, Matt, Pendleton, Neil, Pirastu, Nicola, Pirastu, Mario, Polasek, Ozren, Posthuma, Danielle, Power, Christine, Province, Michael A., Samani, Nilesh J., Schlessinger, David, Schmidt, Reinhold, Sørensen, Thorkild I. A., Spector, Tim D., Stefansson, Kari, Thorsteinsdottir, Unnur, Thurik, A. Roy, Timpson, Nicholas J., Tiemeier, Henning, Uitterlinden, André G., Vitart, Veronique, Vollenweider, Peter, Weir, David R., Wilson, James F., Wright, Alan F., Conley, Dalton C., Krueger, Robert F., Smith, George Davey, Hofman, Albert, Laibson, David I., Medland, Sarah E., Meyer, Michelle N., Johannesson, Magnus, Koellinger, Philipp D., Cesarini, David, Benjamin, Daniel J., Auton, Adam, Boardman, Jason D., Clark, David W., Conlin, Andrew, Dolan, Conor C., Fischbacher, Urs, Harris, Kathleen Mullan, Hasler, Gregor, Ikram, Mohammad A., Jain, Sonia, Kessler, Ronald C., Kooyman, Maarten, Mackillop, James, Männikkö, Minna, Morcillo-Suarez, Carlos, Mcqueen, Matthew B., Schmidt, Klaus M., Smart, Melissa C., Sutter, Matthias, White, Jon, Wit, Harriet de, Fehr, Ernst, Kumari, Meena, Laibson, David, Navarro, Arcadi, Palmer, Abraham A., Schunk, Daniel, Stein, Murray B., Svento, Rauli, Timmers, Paul R. H. J., Ursano, Robert J., Wagner, Gert G., Adult Psychiatry, APH - Mental Health, Psychiatry, Amsterdam Neuroscience - Complex Trait Genetics, Human genetics, Amsterdam Reproduction & Development (AR&D), APH - Digital Health, 23and Me Research Team, eQTLgen Consortium, International Cannabis Consortium, Economics, Biological Psychology, Complex Trait Genetics, APH - Methodology, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, APH - Health Behaviors & Chronic Diseases, APH - Personalized Medicine, Tinbergen Institute, 23andme Research Team, Psychiatric Genomics Consortium, Social Science Genetic Association Consortium, Linner Richard Karlsson, Biroli P, Kong Edward, Meddens Fleur W., Wedow Robbee, Fontana Mark Alan, Lebreton Mael, Tino Stephen P., Abdellaoui Abdel, Hammerschlag Anke R., Nivard Michel G., Okbay Aysu, Rietveld Cornelius A., Timshel Pascal N., Trzaskowski Maciej, de Vlaming Ronald, Zund Christian L., Bao Yanchun, Buzdugan Laura, Caplin Ann H., Chen Chia-Yen, Eibich Peter, Fontanillas Pierre, Gonzalez Juan R., Joshi Peter K., Karhunen Ville, Kleinman Aaron, Levin Remy Z., Lill Christina M., Meddens Gerardus A., Muntane Gerard, Sanchez-Roige Sandra, van Rooij Frank J., Taskesen Erdogan, Wu Yang, Zhang Futao, Agee Michelle, Alipanahi Babak, Bell Robert K., Bryc Katarzyna, Elson Sarah L., Furlotte Nicholas A., Huber Karen E., Litterman Nadia K., McCreight Jennifer C., McIntyre Matthew H., Mountain Joanna L., Northover Carrie A. M., Pitts Steven J., Sathirapongsasuti J. Fah, Sazonova Olga V., Shelton Janie F., Shringarpure Suyash, Tian Chao, Tung Joyce Y., Vacic Vladimir, Wilson Catherine H., Agbessi Mawusse, Ahsan Habibul, Alves Isabel, Andiappan Anand, Awadalla Philip, Battle Alexi, Beutner Frank, Bonder Marc Jan, Boomsma Dorret I., Christiansen Mark, Claringbould Annique, Deelen Patrick, Esko Tonu, Fave Marie-Julie, Franke Lude, Frayling Timothy, Gharib Sina A., Gibson Gregory, Heijmans Bastiaan, Hemani Gibran, Jansen Rick, Kahonen Mika, Kalnapenkis Anette, Kasela Silva, Kettunen Johanne, Kim Yungil, Kirsten Holger, Kovacs Peter, Krohn Knut, Kronberg-Guzman Jaanika, Kukushkina Viktorija, Kutalik Zoltan, Lee Bernett, Lehtimaki Terho, Loeffler Marku, Marigorta Urko M., Metspalu Andre, Milani Lili, Montgomery Grant W., Mueller-Nurasyid Martina, Nauck Matthia, Penninx Brenda, Perola Marku, Pervjakova Natalia, Pierce Brandon, Powell Joseph, Prokisch Holger, Psaty Bruce M., Raitakari Olli, Ring Susan, Ripatti Samuli, Rotzchke Olaf, Rueger Sina, Saha Ashi, Scholz Marku, Schramm Katharina, Seppala Ilkka, Stumvoll Michael, Sullivan Patrick, Hoen Peter-Bramt, Teumer Alexander, Thiery Joachim, Tong Lin, Tonjes Anke, van Dongen Jenny, van Meurs Joyce, Verlouw Joost, Visscher Peter M., Voelker Uwe, Vosa Urmo, Westra Harm-Jan, Yaghootkar Hanieh, Yang Jian, Zeng Biao, Lee James J., Pers Tune H., Turley Patrick, Chen Guo-Bo, Emilsson Valur, Oskarsson Sven, Pickrell Joseph K., Thom Kevin, Timshel Pascal, Ahluwalia Tarunveer S., Bacelis Jona, Baumbach Clemen, Bjornsdottir Gyda, Brandsma Johannes H., Concas Maria Pina, Derringer Jaime, Galesloot Tessel E., Girotto Giorgia, Gupta Richa, Hall Leanne M., Harris Sarah E., Hofer Edith, Horikoshi Momoko, Huffman Jennifer E., Kaasik Kadri, Kalafati Ioanna P., Kong Augustine, Lahti Jari, van der Lee Sven J., de Leeuw Christiaan, Lind Penelope A., Lindgren Karl-Oskar, Liu Tian, Mangino Massimo, Marten Jonathan, Mihailov Evelin, Miller Michael B., van der Most Peter J., Oldmeadow Christopher, Payton Antony, Peyrot Wouter J., Qian Yong, Rueedi Rico, Salvi Erika, Schmidt Boerge, Schraut Katharina E., Shi Jianxin, Smith Albert V., Poot Raymond A., St Pourcain Beate, Thorleifsson Gudmar, Verweij Niek, Vuckovic Dragana, Wellmann Juergen, Yang Jingyun, Zhao Wei, Zhu Zhihong, Alizadeh Behrooz Z., Amin Najaf, Bakshi Andrew, Baumeister Sebastian E., Biino Ginevra, Bonnelykke Klau, Boyle Patricia A., Campbell Harry, Cappuccio Francesco P., Davies Gail, De Neve Jan-Emmanuel, Deloukas Pano, Demuth Ilja, Ding Jun, Eisele Lewin, Eklund Niina, Evans David M., Faul Jessica D., Feitosa Mary F., Forstner Andreas J., Gandin Ilaria, Gunnarsson Bjarni, Halldorsson Bjarni V., Harris Tamara B., Heath Andrew C., Hocking Lynne J., Holliday Elizabeth G., Homuth Georg, Horan Michael A., Hottenga Jouke-Jan, de Jager Philip L., Jugessur Astanand, Kaakinen Marika A., Kanoni Stavroula, Keltigangas-Jarvinen Liisa, Kiemeney Lambertus A. L. M., Kolcic Ivana, Koskinen Seppo, Kraja Aldi T., Kroh Martin, Latvala Antti, Launer Lenore J., Lebreton Mael P., Levinson Douglas F., Lichtenstein Paul, Lichtner Peter, Liewald David C. M., Loukola Anu, Madden Pamela A., Magi Reedik, Maki-Opas Tomi, Marioni Riccardo E., Marques-Vidal Pedro, McMahon George, Meisinger Christa, Meitinger Thoma, Milaneschi Yusplitri, Myhre Ronny, Nelson Christopher P., Nyholt Dale R., Ollier William E. R., Palotie Aarno, Paternoster Lavinia, Pedersen Nancy L., Petrovic Katja E., Porteous David J., Raikkonen Katri, Ring Susan M., Robino Antonietta, Rostapshova Olga, Rudan Igor, Rustichini Aldo, Salomaa Veikko, Sanders Alan R., Sarin Antti-Pekka, Schmidt Helena, Scott Rodney J., Smith Blair H., Smith Jennifer A., Staessen Jan A., Steinhagen-Thiessen Elisabeth, Strauch Konstantin, Terracciano Antonio, Tobin Martin D., Ulivi Sheila, Vaccargiu Simona, Quaye Lydia, Venturini Cristina, Vinkhuyzen Anna A. E., Voelzke Henry, Vonk Judith M., Vozzi Diego, Waage Johanne, Ware Erin B., Willemsen Gonneke, Attia John R., Bennett David A., Berger Klau, Bertram Lar, Bisgaard Han, Borecki Ingrid B., Bultmann Ute, Chabris Christopher F., Cucca Francesco, Cusi Daniele, Deary J., Dedoussis George V., van Duijn Cornelia M., Eriksson Johan G., Franke Barbara, Gasparini Paolo, Gejman Pablo V., Gieger Christian, Grabe Hans-Joergen, Gratten Jacob, Gudnason Vilmundur, van der Harst Pim, Hayward Caroline, Hinds David A., Hoffmann Wolfgang, Hypponen Elina, Iacono William G., Jacobsson Bo, Jarvelin Marjo-Riitta, Jockel Karl-Heinz, Kaprio Jaakko, Kardia Sharon L. R., Lehrer Steven F., Magnusson Patrik K. E., Martin Nicholas G., McGue Matt, Pendleton Neil, Pirastu Nicola, Pirastu Mario, Polasek Ozren, Posthuma Danielle, Power Christine, Province Michael A., Samani Nilesh J., Schlessinger David, Schmidt Reinhold, Sorensen Thorkild I. A., Spector Tim D., Stefansson Kari, Thorsteinsdottir Unnur, Thurik A. Roy, Timpson Nicholas J., Tiemeier Henning, Uitterlinden Andre G., Vitart Veronique, Vollenweider Peter, Weir David R., Wilson James F., Wright Alan F., Conley Dalton C., Krueger Robert F., Smith George Davey, Laibson David I., Medland Sarah E., Johannesson Magnu, Koellinger Philipp D., Cesarini David, Benjamin Daniel J., Auton Adam, Boardman Jason D., Clark David W., Conlin Andrew, Dolan Conor C., Fischbacher Ur, Groenen Patrick J. F., Harris Kathleen Mullan, Hasler Gregor, Hofman Albert, Ikram Mohammad A., Jain Sonia, Karlsson Robert, Kessler Ronald C., Kooyman Maarten, MacKillop Jame, Mannikko Minna, Morcillo-Suarez Carlo, McQueen Matthew B., Schmidt Klaus M., Smart Melissa C., Sutter Matthia, White Jon, de Wit Harriet, Fehr Ernst, Kumari Meena, Laibson David, Meyer Michelle N., Navarro Arcadi, Palmer Abraham A., Schunk Daniel, Stein Murray B., Svento Rauli, Timmers Paul R. H. J., Ursano Robert J., Wagner Gert G., Beauchamp Jonathan P., Karlsson Linnér, Richard, Biroli, Pietro, Kong, Edward, Meddens, S. Fleur W., Wedow, Robbee, Fontana, Mark Alan, Lebreton, Maël, Tino, Stephen P., Abdellaoui, Abdel, Hammerschlag, Anke R., Nivard, Michel G., Okbay, Aysu, Rietveld, Cornelius A., Timshel, Pascal N., Trzaskowski, Maciej, Vlaming, Ronald de, Zünd, Christian L., Bao, Yanchun, Buzdugan, Laura, Caplin, Ann H., Chen, Chia-Yen, Eibich, Peter, Fontanillas, Pierre, Gonzalez, Juan R., Joshi, Peter K., Karhunen, Ville, Kleinman, Aaron, Levin, Remy Z., Lill, Christina M., Meddens, Gerardus A., Muntané, Gerard, Sanchez-Roige, Sandra, Rooij, Frank J. van, Taskesen, Erdogan, Wu, Yang, Zhang, Futao, Agee, Michelle, Alipanahi, Babak, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Furlotte, Nicholas A., Huber, Karen E., Litterman, Nadia K., Mccreight, Jennifer C., Mcintyre, Matthew H., Mountain, Joanna L., Northover, Carrie A. M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Wilson, Catherine H., Agbessi, Mawussé, Ahsan, Habibul, Alves, Isabel, Andiappan, Anand, Awadalla, Philip, Battle, Alexi, Beutner, Frank, Jan Bonder, Marc, Boomsma, Dorret I., Christiansen, Mark, Claringbould, Annique, Deelen, Patrick, Esko, Tõnu, Favé, Marie-Julie, Franke, Lude, Frayling, Timothy, Gharib, Sina A., Gibson, Gregory, Heijmans, Bastiaan, Hemani, Gibran, Jansen, Rick, Kähönen, Mika, Kalnapenkis, Anette, Kasela, Silva, Kettunen, Johanne, Kim, Yungil, Kirsten, Holger, Kovacs, Peter, Krohn, Knut, Kronberg-Guzman, Jaanika, Kukushkina, Viktorija, Kutalik, Zoltan, Lee, Bernett, Lehtimäki, Terho, Loeffler, Marku, Marigorta, Urko M., Metspalu, Andre, Milani, Lili, Montgomery, Grant W., Müller-Nurasyid, Martina, Nauck, Matthia, Penninx, Brenda, Perola, Marku, Pervjakova, Natalia, Pierce, Brandon, Powell, Joseph, Prokisch, Holger, Psaty, Bruce M., Raitakari, Olli, Ring, Susan, Ripatti, Samuli, Rotzchke, Olaf, Rüeger, Sina, Saha, Ashi, Scholz, Marku, Schramm, Katharina, Seppälä, Ilkka, Stumvoll, Michael, Sullivan, Patrick, Hoen, Peter-Bram t, Teumer, Alexander, Thiery, Joachim, Tong, Lin, Tönjes, Anke, Dongen, Jenny van, Meurs, Joyce van, Verlouw, Joost, Visscher, Peter M., Völker, Uwe, Võsa, Urmo, Westra, Harm-Jan, Yaghootkar, Hanieh, Yang, Jian, Zeng, Biao, Beauchamp, Jonathan P., Lee, James J., Pers, Tune H., Turley, Patrick, Chen, Guo-Bo, Emilsson, Valur, Oskarsson, Sven, Pickrell, Joseph K., Thom, Kevin, Timshel, Pascal, de Vlaming, Ronald, Ahluwalia, Tarunveer S., Bacelis, Jona, Baumbach, Clemen, Bjornsdottir, Gyda, Brandsma, Johannes H., Concas, Maria Pina, Derringer, Jaime, Galesloot, Tessel E., Girotto, Giorgia, Gupta, Richa, Hall, Leanne M., Harris, Sarah E., Hofer, Edith, Horikoshi, Momoko, Huffman, Jennifer E., Kaasik, Kadri, Kalafati, Ioanna P., Karlsson, Robert, Kong, Augustine, Lahti, Jari, Lee, Sven J. van der, de Leeuw, Christiaan, Lind, Penelope A., Lindgren, Karl-Oskar, Liu, Tian, Mangino, Massimo, Marten, Jonathan, Mihailov, Evelin, Miller, Michael B., Most, Peter J. van der, Oldmeadow, Christopher, Payton, Antony, Peyrot, Wouter J., Qian, Yong, Rueedi, Rico, Salvi, Erika, Schmidt, Börge, Schraut, Katharina E., Shi, Jianxin, Smith, Albert V., Poot, Raymond A., Pourcain, Beate St, Thorleifsson, Gudmar, Verweij, Niek, Vuckovic, Dragana, Wellmann, Juergen, Yang, Jingyun, Zhao, Wei, Zhu, Zhihong, Alizadeh, Behrooz Z., Amin, Najaf, Bakshi, Andrew, Baumeister, Sebastian E., Biino, Ginevra, Bønnelykke, Klau, Boyle, Patricia A., Campbell, Harry, Cappuccio, Francesco P., Davies, Gail, De Neve, Jan-Emmanuel, Deloukas, Pano, Demuth, Ilja, Ding, Jun, Eisele, Lewin, Eklund, Niina, Evans, David M., Faul, Jessica D., Feitosa, Mary F., Forstner, Andreas J., Gandin, Ilaria, Gunnarsson, Bjarni, Halldórsson, Bjarni V., Harris, Tamara B., Heath, Andrew C., Hocking, Lynne J., Holliday, Elizabeth G., Homuth, Georg, Horan, Michael A., Hottenga, Jouke-Jan, de Jager, Philip L., Jugessur, Astanand, Kaakinen, Marika A., Kanoni, Stavroula, Keltigangas-Järvinen, Liisa, Kiemeney, Lambertus A. L. M., Kolcic, Ivana, Koskinen, Seppo, Kraja, Aldi T., Kroh, Martin, Latvala, Antti, Launer, Lenore J., Lebreton, Maël P., Levinson, Douglas F., Lichtenstein, Paul, Lichtner, Peter, Liewald, David C. M., Loukola, Anu, Madden, Pamela A., Mägi, Reedik, Mäki-Opas, Tomi, Marioni, Riccardo E., Marques-Vidal, Pedro, Mcmahon, George, Meisinger, Christa, Meitinger, Thoma, Milaneschi, Yusplitri, Myhre, Ronny, Nelson, Christopher P., Nyholt, Dale R., Ollier, William E. R., Palotie, Aarno, Paternoster, Lavinia, Pedersen, Nancy L., Petrovic, Katja E., Porteous, David J., Räikkönen, Katri, Ring, Susan M., Robino, Antonietta, Rostapshova, Olga, Rudan, Igor, Rustichini, Aldo, Salomaa, Veikko, Sanders, Alan R., Sarin, Antti-Pekka, Schmidt, Helena, Scott, Rodney J., Smith, Blair H., Smith, Jennifer A., Staessen, Jan A., Steinhagen-Thiessen, Elisabeth, Strauch, Konstantin, Terracciano, Antonio, Tobin, Martin D., Ulivi, Sheila, Vaccargiu, Simona, Quaye, Lydia, Venturini, Cristina, Vinkhuyzen, Anna A. E., Völzke, Henry, Vonk, Judith M., Vozzi, Diego, Waage, Johanne, Ware, Erin B., Willemsen, Gonneke, Attia, John R., Bennett, David A., Berger, Klau, Bertram, Lar, Bisgaard, Han, Borecki, Ingrid B, Bültmann, Ute, Chabris, Christopher F., Cucca, Francesco, Cusi, Daniele, Deary, Ian J., Dedoussis, George V., Duijn, Cornelia M. van, Eriksson, Johan G., Franke, Barbara, Gasparini, Paolo, Gejman, Pablo V., Gieger, Christian, Grabe, Hans-Jörgen, Gratten, Jacob, Groenen, Patrick J. F., Gudnason, Vilmundur, Harst, Pim van der, Hayward, Caroline, Hinds, David A., Hoffmann, Wolfgang, Hyppönen, Elina, Iacono, William G., Jacobsson, Bo, Järvelin, Marjo-Riitta, Jöckel, Karl-Heinz, Kaprio, Jaakko, Kardia, Sharon L. R., Lehrer, Steven F., Magnusson, Patrik K. E., Martin, Nicholas G., Mcgue, Matt, Pendleton, Neil, Pirastu, Nicola, Pirastu, Mario, Polasek, Ozren, Posthuma, Danielle, Power, Christine, Province, Michael A., Samani, Nilesh J., Schlessinger, David, Schmidt, Reinhold, Sørensen, Thorkild I. A., Spector, Tim D., Stefansson, Kari, Thorsteinsdottir, Unnur, Thurik, A. Roy, Timpson, Nicholas J., Tiemeier, Henning, Uitterlinden, André G., Vitart, Veronique, Vollenweider, Peter, Weir, David R., Wilson, James F., Wright, Alan F., Conley, Dalton C., Krueger, Robert F., Smith, George Davey, Hofman, Albert, Laibson, David I., Medland, Sarah E., Meyer, Michelle N., Johannesson, Magnu, Koellinger, Philipp D., Cesarini, David, Benjamin, Daniel J., Auton, Adam, Boardman, Jason D., Clark, David W., Conlin, Andrew, Dolan, Conor C., Fischbacher, Ur, Harris, Kathleen Mullan, Hasler, Gregor, Ikram, Mohammad A., Jain, Sonia, Kessler, Ronald C., Kooyman, Maarten, Mackillop, Jame, Männikkö, Minna, Morcillo-Suarez, Carlo, Mcqueen, Matthew B., Schmidt, Klaus M., Smart, Melissa C., Sutter, Matthia, White, Jon, Wit, Harriet de, Fehr, Ernst, Kumari, Meena, Laibson, David, Navarro, Arcadi, Palmer, Abraham A., Schunk, Daniel, Stein, Murray B., Svento, Rauli, Timmers, Paul R. H. J., Ursano, Robert J., Wagner, Gert G., Applied Economics, Hematology, Epidemiology, Urology, Department of Marketing Management, Internal Medicine, Medical Informatics, Cell biology, Erasmus MC other, Molecular Genetics, Econometrics, Child and Adolescent Psychiatry / Psychology, Radiology & Nuclear Medicine, Epidemiologie, RS: CARIM - R3.02 - Hypertension and target organ damage, RS: Carim - V02 Hypertension and target organ damage, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Groningen Research Institute for Asthma and COPD (GRIAC), Public Health Research (PHR), Cardiovascular Centre (CVC), Life Course Epidemiology (LCE), Stem Cell Aging Leukemia and Lymphoma (SALL), Real World Studies in PharmacoEpidemiology, -Genetics, -Economics and -Therapy (PEGET), Linnér, Richard Karlsson, Biroli , Pietro, Meddens, S Fleur W, and Beauchamp, Jonathan P

Subjects
Netherlands Twin Register (NTR), Male, LD, Medizin, Poison control, Genome-wide association study, DETERMINANTS, Cathie Marsh Institute, PREFERENCES, Q1, Genome-wide association studies, HV, 0302 clinical medicine, Genetics, Behavioral/methods, GWAS, Genetics & Heredity, Genetics, 0303 health sciences, PERSONALITY, Genetic Predisposition to Disease/genetics, Behavior/physiology, Polymorphism, Single Nucleotide/genetics, 3. Good health, Manchester Institute for Collaborative Research on Ageing, Meta-analysis, Urological cancers Radboud Institute for Health Sciences [Radboudumc 15], Genetic Loci/genetics, Behavioural genetics, Genome-Wide Association Study/methods, Medical genetics, Female, Life Sciences & Biomedicine, Single Nucleotide/genetics, medicine.medical_specialty, ResearchInstitutes_Networks_Beacons/MICRA, Genotype, Single-nucleotide polymorphism, Genetics, Behavioral, Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, SDG 3 - Good Health and Well-being, ddc:330, medicine, GENDER-DIFFERENCES, SNP, Humans, Genetic Predisposition to Disease, Polymorphism, behavioural genetics, Behavioral/methods, 030304 developmental biology, Genetic association, Behavior, Science & Technology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Data Science, Case-control study, risk tolerance, GWAS, genetic architechture, Genetic Loci, Case-Control Studies, genome-wide association studies, ResearchInstitutes_Networks_Beacons/cathie_marsh_institute, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

Humans vary substantially in their willingness to take risks. In a combined sample of over 1 million individuals, we conducted genome-wide association studies (GWAS) of general risk tolerance, adventurousness, and risky behaviors in the driving, drinking, smoking, and sexual domains. Across all GWAS, we identified hundreds of associated loci, including 99 loci associated with general risk tolerance. We report evidence of substantial shared genetic influences across risk tolerance and the risky behaviors: 46 of the 99 general risk tolerance loci contain a lead SNP for at least one of our other GWAS, and general risk tolerance is genetically correlated ([Formula: see text] ~ 0.25 to 0.50) with a range of risky behaviors. Bioinformatics analyses imply that genes near SNPs associated with general risk tolerance are highly expressed in brain tissues and point to a role for glutamatergic and GABAergic neurotransmission. We found no evidence of enrichment for genes previously hypothesized to relate to risk tolerance. This research was carried out under the auspices of the Social Science Genetic Association Consortium. The research was also conducted using the UK Biobank Resource under application number 11425. The study was supported by funding from the Ragnar Söderberg Foundation (E9/11 and E42/15); the Swedish Research Council (421-2013-1061); the Jan Wallander and Tom Hedelius Foundation; an ERC Consolidator Grant to Philipp Koellinger (647648 EdGe); the Pershing Square Fund of the Foundations of Human Behavior; the Open Philanthropy Project; the National Institute on Aging, National Institutes of Health through grants P01-AG005842, P01-AG005842-20S2, P30-AG012810, and T32-AG000186-23 to the National Bureau of Economic Research and R01-AG042568-02 to the University of Southern California; the government of Canada through Genome Canada and the Ontario Genomics Institute (OGI-152); and the Social Sciences and Humanities Research Council of Canada. We thank the International Cannabis Consortium, the eQTLgen Consortium, and the Psychiatric Genomics Consortium for sharing summary statistics from the GWAS of lifetime cannabis use, eQTL summary statistics, and summary statistics from the GWAS of ADHD, respectively. A full list of acknowledgments is provided in the Supplementary Note.

Published
2019
Full Text
View/download PDF

139. Homozygosity for R47H in TREM2 and the Risk of Alzheimer's Disease.

Author

Stefansson H, Walters GB, Sveinbjornsson G, Tragante V, Einarsson G, Helgason H, Sigurðsson A, Beyter D, Snaebjarnarson AS, Ivarsdottir EV, Thorleifsson G, Halldorsson BV, Norddahl G, Styrkarsdottir U, Sturluson A, Holm H, Helgason A, Moore K, Eggertsson HP, Oddsson AH, Jonsdottir GA, Gunnarsson AF, Bjornsdottir G, Gisladottir RS, Thorgeirsson TE, Skuladottir A, Gudbjartsson DF, Sulem P, Jonsson P, Thordardottir S, Snaedal J, Eyjolfsdottir H, Creese B, Ballard C, Corbett A, Vasconcelos Da Silva M, Aarsland D, Andreassen OA, Selbæk G, Djurovic S, Stordal E, Fladby T, Haavik J, Igland J, Giil LM, Eriksson S, Hallmans G, Lövheim H, Lopatko Lindman K, Trupp M, Forsgren L, Werge T, Banasik K, Brunak S, Ullum H, Frikke-Schmidt R, Ostrowski SR, Didriksen M, Sørensen E, Simonsen AH, Nielsen JE, Waldemar G, Pedersen OB, Erikstrup C, Knowlton KU, Nadauld LD, and Stefansson K

Subjects
Aged, Female, Humans, Male, Apolipoproteins E metabolism, Cholesterol, LDL metabolism, Clusterin metabolism, Genetic Predisposition to Disease genetics, Homozygote, Mutation, Missense, Alzheimer Disease ethnology, Alzheimer Disease genetics, Alzheimer Disease metabolism, Membrane Glycoproteins genetics, Membrane Glycoproteins metabolism, Receptors, Immunologic genetics, Receptors, Immunologic metabolism
Published
2024
Full Text
View/download PDF

140. Variants at the Interleukin 1 Gene Locus and Pericarditis.

Author

Thorolfsdottir RB, Jonsdottir AB, Sveinbjornsson G, Aegisdottir HM, Oddsson A, Stefansson OA, Halldorsson GH, Saevarsdottir S, Thorleifsson G, Stefansdottir L, Pedersen OB, Sørensen E, Ghouse J, Raja AA, Zheng C, Silajdzija E, Rand SA, Erikstrup C, Ullum H, Mikkelsen C, Banasik K, Brunak S, Ivarsdottir EV, Sigurdsson A, Beyter D, Sturluson A, Einarsson H, Tragante V, Helgason H, Lund SH, Halldorsson BV, Sigurpalsdottir BD, Olafsson I, Arnar DO, Thorgeirsson G, Knowlton KU, Nadauld LD, Gretarsdottir S, Helgadottir A, Ostrowski SR, Gudbjartssson DF, Jonsdottir I, Bundgaard H, Holm H, Sulem P, and Stefansson K

Subjects
Humans, Male, Adolescent, Female, Genotype, Phenotype, Gene Frequency, Finland, Genome-Wide Association Study
Abstract

Importance: Recurrent pericarditis is a treatment challenge and often a debilitating condition. Drugs inhibiting interleukin 1 cytokines are a promising new treatment option, but their use is based on scarce biological evidence and clinical trials of modest sizes, and the contributions of innate and adaptive immune processes to the pathophysiology are incompletely understood., Objective: To use human genomics, transcriptomics, and proteomics to shed light on the pathogenesis of pericarditis., Design, Setting, and Participants: This was a meta-analysis of genome-wide association studies of pericarditis from 5 countries. Associations were examined between the pericarditis-associated variants and pericarditis subtypes (including recurrent pericarditis) and secondary phenotypes. To explore mechanisms, associations with messenger RNA expression (cis-eQTL), plasma protein levels (pQTL), and CpG methylation of DNA (ASM-QTL) were assessed. Data from Iceland (deCODE genetics, 1983-2020), Denmark (Copenhagen Hospital Biobank/Danish Blood Donor Study, 1977-2022), the UK (UK Biobank, 1953-2021), the US (Intermountain, 1996-2022), and Finland (FinnGen, 1970-2022) were included. Data were analyzed from September 2022 to August 2023., Exposure: Genotype., Main Outcomes and Measures: Pericarditis., Results: In this genome-wide association study of 4894 individuals with pericarditis (mean [SD] age at diagnosis, 51.4 [17.9] years, 2734 [67.6%] male, excluding the FinnGen cohort), associations were identified with 2 independent common intergenic variants at the interleukin 1 locus on chromosome 2q14. The lead variant was rs12992780 (T) (effect allele frequency [EAF], 31%-40%; odds ratio [OR], 0.83; 95% CI, 0.79-0.87; P = 6.67 × 10-16), downstream of IL1B and the secondary variant rs7575402 (A or T) (EAF, 45%-55%; adjusted OR, 0.89; 95% CI, 0.85-0.93; adjusted P = 9.6 × 10-8). The lead variant rs12992780 had a smaller odds ratio for recurrent pericarditis (0.76) than the acute form (0.86) (P for heterogeneity = .03) and rs7575402 was associated with CpG methylation overlapping binding sites of 4 transcription factors known to regulate interleukin 1 production: PU.1 (encoded by SPI1), STAT1, STAT3, and CCAAT/enhancer-binding protein β (encoded by CEBPB)., Conclusions and Relevance: This study found an association between pericarditis and 2 independent sequence variants at the interleukin 1 gene locus. This finding has the potential to contribute to development of more targeted and personalized therapy of pericarditis with interleukin 1-blocking drugs.

Published
2024
Full Text
View/download PDF

141. Actionable Genotypes and Their Association with Life Span in Iceland.

Author

Jensson BO, Arnadottir GA, Katrinardottir H, Fridriksdottir R, Helgason H, Oddsson A, Sveinbjornsson G, Eggertsson HP, Halldorsson GH, Atlason BA, Jonsson H, Oskarsson GR, Sturluson A, Gudjonsson SA, Thorisson GA, Zink F, Moore KHS, Palsson G, Sigurdsson A, Jonasdottir A, Jonasdottir A, Magnusson MK, Helgadottir A, Steinthorsdottir V, Gudmundsson J, Stacey SN, Hilmarsson R, Olafsson I, Johannsson OT, Arnar DO, Saemundsdottir J, Magnusson OT, Masson G, Halldorsson BV, Helgason A, Stefansson H, Jonsdottir I, Holm H, Rafnar T, Thorsteinsdottir U, Gudbjartsson DF, Stefansson K, and Sulem P

Subjects
Alleles, Genetic Testing, Neoplasms genetics, Cardiovascular Diseases genetics, Humans, Iceland epidemiology, Genotype, Genetic Variation, Scandinavians and Nordic People, Disease genetics, Longevity genetics, Genomics
Abstract

Background: In 2021, the American College of Medical Genetics and Genomics (ACMG) recommended reporting actionable genotypes in 73 genes associated with diseases for which preventive or therapeutic measures are available. Evaluations of the association of actionable genotypes in these genes with life span are currently lacking., Methods: We assessed the prevalence of coding and splice variants in genes on the ACMG Secondary Findings, version 3.0 (ACMG SF v3.0), list in the genomes of 57,933 Icelanders. We assigned pathogenicity to all reviewed variants using reported evidence in the ClinVar database, the frequency of variants, and their associations with disease to create a manually curated set of actionable genotypes (variants). We assessed the relationship between these genotypes and life span and further examined the specific causes of death among carriers., Results: Through manual curation of 4405 sequence variants in the ACMG SF v3.0 genes, we identified 235 actionable genotypes in 53 genes. Of the 57,933 participants, 2306 (4.0%) carried at least one actionable genotype. We found shorter median survival among persons carrying actionable genotypes than among noncarriers. Specifically, we found that carrying an actionable genotype in a cancer gene was associated with survival that was 3 years shorter than that among noncarriers, with causes of death among carriers attributed primarily to cancer-related conditions. Furthermore, we found evidence of association between carrying an actionable genotype in certain genes in the cardiovascular disease group and a reduced life span., Conclusions: On the basis of the ACMG SF v3.0 guidelines, we found that approximately 1 in 25 Icelanders carried an actionable genotype and that carrying such a genotype was associated with a reduced life span. (Funded by deCODE Genetics-Amgen.)., (Copyright © 2023 Massachusetts Medical Society.)

Published
2023
Full Text
View/download PDF

142. Sequence variants affecting voice pitch in humans.

Author

Gisladottir RS, Helgason A, Halldorsson BV, Helgason H, Borsky M, Chien YR, Gudnason J, Gudjonsson SA, Moisik S, Dediu D, Thorleifsson G, Tragante V, Bustamante M, Jonsdottir GA, Stefansdottir L, Rutsdottir G, Magnusson SH, Hardarson M, Ferkingstad E, Halldorsson GH, Rognvaldsson S, Skuladottir A, Ivarsdottir EV, Norddahl G, Thorgeirsson G, Jonsdottir I, Ulfarsson MO, Holm H, Stefansson H, Thorsteinsdottir U, Gudbjartsson DF, Sulem P, and Stefansson K

Subjects
Humans, Speech physiology, Acoustics, Speech Acoustics, Voice
Abstract

The genetic basis of the human vocal system is largely unknown, as are the sequence variants that give rise to individual differences in voice and speech. Here, we couple data on diversity in the sequence of the genome with voice and vowel acoustics in speech recordings from 12,901 Icelanders. We show how voice pitch and vowel acoustics vary across the life span and correlate with anthropometric, physiological, and cognitive traits. We found that voice pitch and vowel acoustics have a heritable component and discovered correlated common variants in ABCC9 that associate with voice pitch. The ABCC9 variants also associate with adrenal gene expression and cardiovascular traits. By showing that voice and vowel acoustics are influenced by genetics, we have taken important steps toward understanding the genetics and evolution of the human vocal system.

Published
2023
Full Text
View/download PDF

143. Sequence variants associating with urinary biomarkers.

Author

Benonisdottir S, Kristjansson RP, Oddsson A, Steinthorsdottir V, Mikaelsdottir E, Kehr B, Jensson BO, Arnadottir GA, Sulem G, Sveinbjornsson G, Kristmundsdottir S, Ivarsdottir EV, Tragante V, Gunnarsson B, Runolfsdottir HL, Arthur JG, Deaton AM, Eyjolfsson GI, Davidsson OB, Asselbergs FW, Hreidarsson AB, Rafnar T, Thorleifsson G, Edvardsson V, Sigurdsson G, Helgadottir A, Halldorsson BV, Masson G, Holm H, Onundarson PT, Indridason OS, Benediktsson R, Palsson R, Gudbjartsson DF, Olafsson I, Thorsteinsdottir U, Sulem P, and Stefansson K

Subjects
Adult, Aged, Alleles, Female, Hematuria genetics, Hematuria urine, Humans, Hydrogen-Ion Concentration, Iceland, Ketosis genetics, Ketosis urine, Kidney metabolism, Male, Middle Aged, Proteinuria genetics, Proteinuria urine, Sodium-Glucose Transporter 2 genetics, Whole Genome Sequencing methods, Biomarkers analysis, Biomarkers urine, Genetic Variation genetics
Abstract

Urine dipstick tests are widely used in routine medical care to diagnose kidney and urinary tract and metabolic diseases. Several environmental factors are known to affect the test results, whereas the effects of genetic diversity are largely unknown. We tested 32.5 million sequence variants for association with urinary biomarkers in a set of 150 274 Icelanders with urine dipstick measurements. We detected 20 association signals, of which 14 are novel, associating with at least one of five clinical entities defined by the urine dipstick: glucosuria, ketonuria, proteinuria, hematuria and urine pH. These include three independent glucosuria variants at SLC5A2, the gene encoding the sodium-dependent glucose transporter (SGLT2), a protein targeted pharmacologically to increase urinary glucose excretion in the treatment of diabetes. Two variants associating with proteinuria are in LRP2 and CUBN, encoding the co-transporters megalin and cubilin, respectively, that mediate proximal tubule protein uptake. One of the hematuria-associated variants is a rare, previously unreported 2.5 kb exonic deletion in COL4A3. Of the four signals associated with urine pH, we note that the pH-increasing alleles of two variants (POU2AF1, WDR72) associate significantly with increased risk of kidney stones. Our results reveal that genetic factors affect variability in urinary biomarkers, in both a disease dependent and independent context., (© The Author(s) 2018. Published by Oxford University Press.)

Published
2019
Full Text
View/download PDF

144. Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome.

Author

Day FR, Hinds DA, Tung JY, Stolk L, Styrkarsdottir U, Saxena R, Bjonnes A, Broer L, Dunger DB, Halldorsson BV, Lawlor DA, Laval G, Mathieson I, McCardle WL, Louwers Y, Meun C, Ring S, Scott RA, Sulem P, Uitterlinden AG, Wareham NJ, Thorsteinsdottir U, Welt C, Stefansson K, Laven JSE, Ong KK, and Perry JRB

Subjects
Acid Anhydride Hydrolases, Adaptor Proteins, Signal Transducing genetics, Aging physiology, Case-Control Studies, DNA Repair Enzymes genetics, DNA-Binding Proteins genetics, ErbB Receptors genetics, Female, Follicle Stimulating Hormone, beta Subunit genetics, Genome-Wide Association Study, Humans, Neoplasm Proteins genetics, Ovary physiology, Phosphoproteins genetics, Transcription Factors, YAP-Signaling Proteins, Polycystic Ovary Syndrome genetics, Selection, Genetic, White People genetics
Abstract

Polycystic ovary syndrome (PCOS) is the most common reproductive disorder in women, yet there is little consensus regarding its aetiology. Here we perform a genome-wide association study of PCOS in up to 5,184 self-reported cases of White European ancestry and 82,759 controls, with follow-up in a further ∼2,000 clinically validated cases and ∼100,000 controls. We identify six signals for PCOS at genome-wide statistical significance (P<5 × 10(-8)), in/near genes ERBB4/HER4, YAP1, THADA, FSHB, RAD50 and KRR1. Variants in/near three of the four epidermal growth factor receptor genes (ERBB2/HER2, ERBB3/HER3 and ERBB4/HER4) are associated with PCOS at or near genome-wide significance. Mendelian randomization analyses indicate causal roles in PCOS aetiology for higher BMI (P=2.5 × 10(-9)), higher insulin resistance (P=6 × 10(-4)) and lower serum sex hormone binding globulin concentrations (P=5 × 10(-4)). Furthermore, genetic susceptibility to later menopause is associated with higher PCOS risk (P=1.6 × 10(-8)) and PCOS-susceptibility alleles are associated with higher serum anti-Müllerian hormone concentrations in girls (P=8.9 × 10(-5)). This large-scale study implicates an aetiological role of the epidermal growth factor receptors, infers causal mechanisms relevant to clinical management and prevention, and suggests balancing selection mechanisms involved in PCOS risk.

Published
2015
Full Text
View/download PDF

145. Whole-genome shotgun assembly and comparison of human genome assemblies.

Author

Istrail S, Sutton GG, Florea L, Halpern AL, Mobarry CM, Lippert R, Walenz B, Shatkay H, Dew I, Miller JR, Flanigan MJ, Edwards NJ, Bolanos R, Fasulo D, Halldorsson BV, Hannenhalli S, Turner R, Yooseph S, Lu F, Nusskern DR, Shue BC, Zheng XH, Zhong F, Delcher AL, Huson DH, Kravitz SA, Mouchard L, Reinert K, Remington KA, Clark AG, Waterman MS, Eichler EE, Adams MD, Hunkapiller MW, Myers EW, and Venter JC

Subjects
Contig Mapping standards, Humans, RNA, Messenger analysis, Software, Computational Biology standards, Genome, Human, Human Genome Project
Abstract

We report a whole-genome shotgun assembly (called WGSA) of the human genome generated at Celera in 2001. The Celera-generated shotgun data set consisted of 27 million sequencing reads organized in pairs by virtue of end-sequencing 2-kbp, 10-kbp, and 50-kbp inserts from shotgun clone libraries. The quality-trimmed reads covered the genome 5.3 times, and the inserts from which pairs of reads were obtained covered the genome 39 times. With the nearly complete human DNA sequence [National Center for Biotechnology Information (NCBI) Build 34] now available, it is possible to directly assess the quality, accuracy, and completeness of WGSA and of the first reconstructions of the human genome reported in two landmark papers in February 2001 [Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., Sutton, G. G., Smith, H. O., Yandell, M., Evans, C. A., Holt, R. A., et al. (2001) Science 291, 1304-1351; International Human Genome Sequencing Consortium (2001) Nature 409, 860-921]. The analysis of WGSA shows 97% order and orientation agreement with NCBI Build 34, where most of the 3% of sequence out of order is due to scaffold placement problems as opposed to assembly errors within the scaffolds themselves. In addition, WGSA fills some of the remaining gaps in NCBI Build 34. The early genome sequences all covered about the same amount of the genome, but they did so in different ways. The Celera results provide more order and orientation, and the consortium sequence provides better coverage of exact and nearly exact repeats.

Published
2004
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results