30 results on '"Kloosterman, Wigard P."'
Search Results
2. Accurate detection of circulating tumor DNA using nanopore consensus sequencing
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CMM Groep De Ridder, Cancer, Genetica Medische Informatica, Child Health, MS Mondziekten/Kaakchirurgie, MS Hoofd-Hals Chirurgische Oncologie, MS Radiotherapie, MS Medische Oncologie, Pathologie Pathologen staf, Marcozzi, Alessio, Jager, Myrthe, Elferink, Martin, Straver, Roy, van Ginkel, Joost H, Peltenburg, Boris, Chen, Li-Ting, Renkens, Ivo, van Kuik, Joyce, Terhaard, Chris, de Bree, Remco, Devriese, Lot A, Willems, Stefan M, Kloosterman, Wigard P, de Ridder, Jeroen, CMM Groep De Ridder, Cancer, Genetica Medische Informatica, Child Health, MS Mondziekten/Kaakchirurgie, MS Hoofd-Hals Chirurgische Oncologie, MS Radiotherapie, MS Medische Oncologie, Pathologie Pathologen staf, Marcozzi, Alessio, Jager, Myrthe, Elferink, Martin, Straver, Roy, van Ginkel, Joost H, Peltenburg, Boris, Chen, Li-Ting, Renkens, Ivo, van Kuik, Joyce, Terhaard, Chris, de Bree, Remco, Devriese, Lot A, Willems, Stefan M, Kloosterman, Wigard P, and de Ridder, Jeroen
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- 2021
3. Reconstructing single-cell karyotype alterations in colorectal cancer identifies punctuated and gradual diversification patterns
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CMM Sectie Molecular Cancer Research, CMM Groep Snippert, Regenerative Medicine and Stem Cells, Cancer, Genetica, MS Medische Oncologie, CMM Groep Kloosterman, Lab Reumatologie/Klinische Immunologie, Epi Infectieziekten Team 2, Infection & Immunity, CMM USEQ Facility, CMM Groep Bos, CMM Groep Lens, CMM, CMM Groep Cuppen, Hubrecht Institute with UMC, CMM Groep De Ridder, Child Health, Bollen, Yannik, Stelloo, Ellen, van Leenen, Petra, van den Bos, Myrna, Ponsioen, Bas, Lu, Bingxin, van Roosmalen, Markus J., Bolhaqueiro, Ana C.F., Kimberley, Christopher, Mossner, Maximilian, Cross, William C.H., Besselink, Nicolle J.M., van der Roest, Bastiaan, Boymans, Sander, Oost, Koen C., de Vries, Sippe G., Rehmann, Holger, Cuppen, Edwin, Lens, Susanne M.A., Kops, Geert J.P.L., Kloosterman, Wigard P., Terstappen, Leon W.M.M., Barnes, Chris P., Sottoriva, Andrea, Graham, Trevor A., Snippert, Hugo J.G., CMM Sectie Molecular Cancer Research, CMM Groep Snippert, Regenerative Medicine and Stem Cells, Cancer, Genetica, MS Medische Oncologie, CMM Groep Kloosterman, Lab Reumatologie/Klinische Immunologie, Epi Infectieziekten Team 2, Infection & Immunity, CMM USEQ Facility, CMM Groep Bos, CMM Groep Lens, CMM, CMM Groep Cuppen, Hubrecht Institute with UMC, CMM Groep De Ridder, Child Health, Bollen, Yannik, Stelloo, Ellen, van Leenen, Petra, van den Bos, Myrna, Ponsioen, Bas, Lu, Bingxin, van Roosmalen, Markus J., Bolhaqueiro, Ana C.F., Kimberley, Christopher, Mossner, Maximilian, Cross, William C.H., Besselink, Nicolle J.M., van der Roest, Bastiaan, Boymans, Sander, Oost, Koen C., de Vries, Sippe G., Rehmann, Holger, Cuppen, Edwin, Lens, Susanne M.A., Kops, Geert J.P.L., Kloosterman, Wigard P., Terstappen, Leon W.M.M., Barnes, Chris P., Sottoriva, Andrea, Graham, Trevor A., and Snippert, Hugo J.G.
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- 2021
4. Multi-contact 4C : long-molecule sequencing of complex proximity ligation products to uncover local cooperative and competitive chromatin topologies
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Vermeulen, Carlo, Allahyar, Amin, Bouwman, Britta A.M., Krijger, Peter H.L., Verstegen, Marjon J.A.M., Geeven, Geert, Valdes-Quezada, Christian, Renkens, Ivo, Straver, Roy, Kloosterman, Wigard P., de Ridder, Jeroen, de Laat, Wouter, Vermeulen, Carlo, Allahyar, Amin, Bouwman, Britta A.M., Krijger, Peter H.L., Verstegen, Marjon J.A.M., Geeven, Geert, Valdes-Quezada, Christian, Renkens, Ivo, Straver, Roy, Kloosterman, Wigard P., de Ridder, Jeroen, and de Laat, Wouter
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- 2020
5. Multi-contact 4C: long-molecule sequencing of complex proximity ligation products to uncover local cooperative and competitive chromatin topologies
- Author
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CMM Groep De Ridder, Hubrecht Institute with UMC, Cancer, Child Health, Genetica, Vermeulen, Carlo, Allahyar, Amin, Bouwman, Britta A M, Krijger, Peter H L, Verstegen, Marjon J A M, Geeven, Geert, Valdes-Quezada, Christian, Renkens, Ivo, Straver, Roy, Kloosterman, Wigard P, de Ridder, Jeroen, de Laat, Wouter, CMM Groep De Ridder, Hubrecht Institute with UMC, Cancer, Child Health, Genetica, Vermeulen, Carlo, Allahyar, Amin, Bouwman, Britta A M, Krijger, Peter H L, Verstegen, Marjon J A M, Geeven, Geert, Valdes-Quezada, Christian, Renkens, Ivo, Straver, Roy, Kloosterman, Wigard P, de Ridder, Jeroen, and de Laat, Wouter
- Published
- 2020
6. An organoid platform for ovarian cancer captures intra- and interpatient heterogeneity
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Kopper, Oded, de Witte, Chris J, Lõhmussaar, Kadi, Valle-Inclan, Jose Espejo, Hami, Nizar, Kester, Lennart, Balgobind, Anjali Vanita, Korving, Jeroen, Proost, Natalie, Begthel, Harry, van Wijk, Lise M, Revilla, Sonia Aristín, Theeuwsen, Rebecca, van de Ven, Marieke, van Roosmalen, Markus J, Ponsioen, Bas, Ho, Victor W H, Neel, Benjamin G, Bosse, Tjalling, Gaarenstroom, Katja N, Vrieling, Harry, Vreeswijk, Maaike P G, van Diest, Paul J, Witteveen, Petronella O, Jonges, Trudy, Bos, Johannes L, van Oudenaarden, Alexander, Zweemer, Ronald P, Snippert, Hugo J G, Kloosterman, Wigard P, Clevers, Hans, Kopper, Oded, de Witte, Chris J, Lõhmussaar, Kadi, Valle-Inclan, Jose Espejo, Hami, Nizar, Kester, Lennart, Balgobind, Anjali Vanita, Korving, Jeroen, Proost, Natalie, Begthel, Harry, van Wijk, Lise M, Revilla, Sonia Aristín, Theeuwsen, Rebecca, van de Ven, Marieke, van Roosmalen, Markus J, Ponsioen, Bas, Ho, Victor W H, Neel, Benjamin G, Bosse, Tjalling, Gaarenstroom, Katja N, Vrieling, Harry, Vreeswijk, Maaike P G, van Diest, Paul J, Witteveen, Petronella O, Jonges, Trudy, Bos, Johannes L, van Oudenaarden, Alexander, Zweemer, Ronald P, Snippert, Hugo J G, Kloosterman, Wigard P, and Clevers, Hans
- Published
- 2019
7. Enhancer hubs and loop collisions identified from single-allele topologies
- Author
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Allahyar, Amin, Vermeulen, Carlo, Bouwman, Britta A.M., Krijger, Peter H.L., Verstegen, Marjon J.A.M., Geeven, Geert, van Kranenburg, Melissa, Pieterse, Mark, Straver, Roy, Haarhuis, Judith H.I., Jalink, Kees, Teunissen, Hans, Renkens, Ivo J., Kloosterman, Wigard P., Rowland, Benjamin D., de Wit, Elzo, de Ridder, Jeroen, de Laat, Wouter, Allahyar, Amin, Vermeulen, Carlo, Bouwman, Britta A.M., Krijger, Peter H.L., Verstegen, Marjon J.A.M., Geeven, Geert, van Kranenburg, Melissa, Pieterse, Mark, Straver, Roy, Haarhuis, Judith H.I., Jalink, Kees, Teunissen, Hans, Renkens, Ivo J., Kloosterman, Wigard P., Rowland, Benjamin D., de Wit, Elzo, de Ridder, Jeroen, and de Laat, Wouter
- Published
- 2018
8. Confirmation of a metastasis-specific microRNA signature in primary colon cancer
- Author
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Coebergh Van Den Braak, Robert R.J., Sieuwerts, Anieta M., Lalmahomed, Zarina S., Smid, Marcel, Wilting, Saskia M., Bril, Sandra I., Xiang, Shanshan, Van Der Vlugt-Daane, Michelle, De Weerd, Vanja, Van Galen, Anne, Biermann, Katharina, Van Krieken, J. Han J.M., Kloosterman, Wigard P., Foekens, John A., Martens, John W.M., Ijzermans, Jan N.M., Coene, Peter Paul L.O., Dekker, Jan Willem T., Zimmerman, David D.E., Tetteroo, Geert W.M., Vles, Wouter J., Vrijland, Wietske W., MATCH study group, Coebergh Van Den Braak, Robert R.J., Sieuwerts, Anieta M., Lalmahomed, Zarina S., Smid, Marcel, Wilting, Saskia M., Bril, Sandra I., Xiang, Shanshan, Van Der Vlugt-Daane, Michelle, De Weerd, Vanja, Van Galen, Anne, Biermann, Katharina, Van Krieken, J. Han J.M., Kloosterman, Wigard P., Foekens, John A., Martens, John W.M., Ijzermans, Jan N.M., Coene, Peter Paul L.O., Dekker, Jan Willem T., Zimmerman, David D.E., Tetteroo, Geert W.M., Vles, Wouter J., Vrijland, Wietske W., and MATCH study group
- Published
- 2018
9. Enhancer hubs and loop collisions identified from single-allele topologies
- Author
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CMM Groep De Ridder, Cancer, Hubrecht Institute with UMC, CMM Groep Kloosterman, Child Health, Divisie Biomedische Genetica, Allahyar, Amin, Vermeulen, Carlo, Bouwman, Britta A M, Krijger, Peter H L, Verstegen, Marjon J A M, Geeven, Geert, van Kranenburg, Melissa, Pieterse, Mark, Straver, Roy, Haarhuis, Judith H I, Jalink, Kees, Teunissen, Hans, Renkens, Ivo J, Kloosterman, Wigard P, Rowland, Benjamin D, de Wit, Elzo, de Ridder, Jeroen, de Laat, Wouter, CMM Groep De Ridder, Cancer, Hubrecht Institute with UMC, CMM Groep Kloosterman, Child Health, Divisie Biomedische Genetica, Allahyar, Amin, Vermeulen, Carlo, Bouwman, Britta A M, Krijger, Peter H L, Verstegen, Marjon J A M, Geeven, Geert, van Kranenburg, Melissa, Pieterse, Mark, Straver, Roy, Haarhuis, Judith H I, Jalink, Kees, Teunissen, Hans, Renkens, Ivo J, Kloosterman, Wigard P, Rowland, Benjamin D, de Wit, Elzo, de Ridder, Jeroen, and de Laat, Wouter
- Published
- 2018
10. Confirmation of a metastasis-specific microRNA signature in primary colon cancer
- Author
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Genetica, CMM Groep Kloosterman, Child Health, Cancer, Coebergh Van Den Braak, Robert R.J., Sieuwerts, Anieta M., Lalmahomed, Zarina S., Smid, Marcel, Wilting, Saskia M., Bril, Sandra I., Xiang, Shanshan, Van Der Vlugt-Daane, Michelle, De Weerd, Vanja, Van Galen, Anne, Biermann, Katharina, Van Krieken, J. Han J.M., Kloosterman, Wigard P., Foekens, John A., Martens, John W.M., Ijzermans, Jan N.M., Coene, Peter Paul L.O., Dekker, Jan Willem T., Zimmerman, David D.E., Tetteroo, Geert W.M., Vles, Wouter J., Vrijland, Wietske W., MATCH study group, Genetica, CMM Groep Kloosterman, Child Health, Cancer, Coebergh Van Den Braak, Robert R.J., Sieuwerts, Anieta M., Lalmahomed, Zarina S., Smid, Marcel, Wilting, Saskia M., Bril, Sandra I., Xiang, Shanshan, Van Der Vlugt-Daane, Michelle, De Weerd, Vanja, Van Galen, Anne, Biermann, Katharina, Van Krieken, J. Han J.M., Kloosterman, Wigard P., Foekens, John A., Martens, John W.M., Ijzermans, Jan N.M., Coene, Peter Paul L.O., Dekker, Jan Willem T., Zimmerman, David D.E., Tetteroo, Geert W.M., Vles, Wouter J., Vrijland, Wietske W., and MATCH study group
- Published
- 2018
11. Mapping and phasing of structural variation in patient genomes using nanopore sequencing
- Author
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Cretu Stancu, Mircea, van Roosmalen, Markus J, Renkens, Ivo, Nieboer, Marleen M, Middelkamp, Sjors, de Ligt, Joep, Pregno, Giulia, Giachino, Daniela, Mandrile, Giorgia, Espejo Valle-Inclan, Jose, Korzelius, Jerome, de Bruijn, Ewart, Cuppen, Edwin, Talkowski, Michael E., Marschall, Tobias, de Ridder, Jeroen, Kloosterman, Wigard P, Cretu Stancu, Mircea, van Roosmalen, Markus J, Renkens, Ivo, Nieboer, Marleen M, Middelkamp, Sjors, de Ligt, Joep, Pregno, Giulia, Giachino, Daniela, Mandrile, Giorgia, Espejo Valle-Inclan, Jose, Korzelius, Jerome, de Bruijn, Ewart, Cuppen, Edwin, Talkowski, Michael E., Marschall, Tobias, de Ridder, Jeroen, and Kloosterman, Wigard P
- Published
- 2017
12. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
- Author
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Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, Talkowski, Michael E, Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, and Talkowski, Michael E
- Published
- 2017
13. Mapping and phasing of structural variation in patient genomes using nanopore sequencing
- Author
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CMM Groep Kaaij, Circulatory Health, CMM Groep Kloosterman, Genetica, CMM Groep De Ridder, CMM Groep Cuppen, Cancer, CMM, CMM Sectie Genomics and Bioinformatics, Child Health, Cretu Stancu, Mircea, van Roosmalen, Markus J, Renkens, Ivo, Nieboer, Marleen M, Middelkamp, Sjors, de Ligt, Joep, Pregno, Giulia, Giachino, Daniela, Mandrile, Giorgia, Espejo Valle-Inclan, Jose, Korzelius, Jerome, de Bruijn, Ewart, Cuppen, Edwin, Talkowski, Michael E., Marschall, Tobias, de Ridder, Jeroen, Kloosterman, Wigard P, CMM Groep Kaaij, Circulatory Health, CMM Groep Kloosterman, Genetica, CMM Groep De Ridder, CMM Groep Cuppen, Cancer, CMM, CMM Sectie Genomics and Bioinformatics, Child Health, Cretu Stancu, Mircea, van Roosmalen, Markus J, Renkens, Ivo, Nieboer, Marleen M, Middelkamp, Sjors, de Ligt, Joep, Pregno, Giulia, Giachino, Daniela, Mandrile, Giorgia, Espejo Valle-Inclan, Jose, Korzelius, Jerome, de Bruijn, Ewart, Cuppen, Edwin, Talkowski, Michael E., Marschall, Tobias, de Ridder, Jeroen, and Kloosterman, Wigard P
- Published
- 2017
14. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
- Author
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Genetica Klinische Genetica, Brain, CMM, Circulatory Health, Cancer, Child Health, Genetica Sectie Genoomdiagnostiek, CMM Groep Cuppen, Genetica, CMM Groep Kloosterman, Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, Talkowski, Michael E, Genetica Klinische Genetica, Brain, CMM, Circulatory Health, Cancer, Child Health, Genetica Sectie Genoomdiagnostiek, CMM Groep Cuppen, Genetica, CMM Groep Kloosterman, Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, and Talkowski, Michael E
- Published
- 2017
15. A high-quality human reference panel reveals the complexity and distribution of genomic structural variants
- Author
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Hehir-Kwa, Jayne Y., Marschall, Tobias, Kloosterman, Wigard P., Francioli, Laurent C., Baaijens, Jasmijn A., Dijkstra, Louis J., Abdellaoui, Abdel, Koval, Vyacheslav, Thung, Djie Tjwan, Wardenaar, René, Renkens, Ivo, Coe, Bradley P., Deelen, Patrick, De Ligt, Joep, Lameijer, Eric Wubbo, Van Dijk, Freerk, Hormozdiari, Fereydoun, Uitterlinden, André G., Van Duijn, Cornelia M., Eichler, Evan E., De Bakker, Paul I.W., Swertz, Morris A., Wijmenga, Cisca, Van Ommen, Gert Jan B, Slagboom, P. Eline, Boomsma, Dorret I., Schönhuth, Alexander, Ye, Kai, Guryev, Victor, Bovenberg, Jasper A., De Craen, Anton J M, Beekman, Marian, Hofman, Albert, Willemsen, Gonneke, Wolffenbuttel, Bruce, Platteel, Mathieu, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Cao, Rui, Sun, Yushen, Cao, Jeremy Sujie, Neerincx, Pieter B T, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Vermaat, Martijn, Laros, Jeroen F., den Dunnen, Johan T., De Knijff, Peter, Karssen, Lennart C., Van Leeuwen, Elisa M., Amin, Najaf, Rivadeneira, Fernando, Estrada, Karol, Hottenga, Jouke-Jan, Kattenberg, V. Mathijs, Van Enckevort, David, Mei, Hailiang, Santcroos, Mark, Van Schaik, Barbera D C, Handsaker, Robert E., McCarroll, Steven A., Ko, Arthur, Sudmant, Peter, Nijman, Isaac J., Hehir-Kwa, Jayne Y., Marschall, Tobias, Kloosterman, Wigard P., Francioli, Laurent C., Baaijens, Jasmijn A., Dijkstra, Louis J., Abdellaoui, Abdel, Koval, Vyacheslav, Thung, Djie Tjwan, Wardenaar, René, Renkens, Ivo, Coe, Bradley P., Deelen, Patrick, De Ligt, Joep, Lameijer, Eric Wubbo, Van Dijk, Freerk, Hormozdiari, Fereydoun, Uitterlinden, André G., Van Duijn, Cornelia M., Eichler, Evan E., De Bakker, Paul I.W., Swertz, Morris A., Wijmenga, Cisca, Van Ommen, Gert Jan B, Slagboom, P. Eline, Boomsma, Dorret I., Schönhuth, Alexander, Ye, Kai, Guryev, Victor, Bovenberg, Jasper A., De Craen, Anton J M, Beekman, Marian, Hofman, Albert, Willemsen, Gonneke, Wolffenbuttel, Bruce, Platteel, Mathieu, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Cao, Rui, Sun, Yushen, Cao, Jeremy Sujie, Neerincx, Pieter B T, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Vermaat, Martijn, Laros, Jeroen F., den Dunnen, Johan T., De Knijff, Peter, Karssen, Lennart C., Van Leeuwen, Elisa M., Amin, Najaf, Rivadeneira, Fernando, Estrada, Karol, Hottenga, Jouke-Jan, Kattenberg, V. Mathijs, Van Enckevort, David, Mei, Hailiang, Santcroos, Mark, Van Schaik, Barbera D C, Handsaker, Robert E., McCarroll, Steven A., Ko, Arthur, Sudmant, Peter, and Nijman, Isaac J.
- Published
- 2016
16. A framework for the detection of de novo mutations in family-based sequencing data
- Author
-
Francioli, Laurent C., Cretu-Stancu, Mircea, Garimella, Kiran V., Fromer, Menachem, Kloosterman, Wigard P., Samocha, Kaitlin E., Neale, Benjamin M., Daly, Mark J., Banks, Eric, DePristo, Mark A., de Bakker, Paul IW, Francioli, Laurent C., Cretu-Stancu, Mircea, Garimella, Kiran V., Fromer, Menachem, Kloosterman, Wigard P., Samocha, Kaitlin E., Neale, Benjamin M., Daly, Mark J., Banks, Eric, DePristo, Mark A., and de Bakker, Paul IW
- Published
- 2016
17. The presence of extra chromosomes leads to genomic instability
- Author
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Passerini, Verena, Ozeri-Galai, Efrat, De Pagter, Mirjam S., Donnelly, Neysan, Schmalbrock, Sarah, Kloosterman, Wigard P., Kerem, Batsheva, Storchová, Zuzana, Passerini, Verena, Ozeri-Galai, Efrat, De Pagter, Mirjam S., Donnelly, Neysan, Schmalbrock, Sarah, Kloosterman, Wigard P., Kerem, Batsheva, and Storchová, Zuzana
- Published
- 2016
18. A high-quality human reference panel reveals the complexity and distribution of genomic structural variants
- Author
-
Genetica, CMM Groep Kloosterman, Child Health, Cancer, CMM Groep Kaaij, CMM Groep Cuppen, CMM Groep De Ridder, Epi Methoden Team 2, Infection & Immunity, Circulatory Health, Hubrecht Institute with UMC, Genetica Medische Informatica, Genetica Sectie Genoomdiagnostiek, Hehir-Kwa, Jayne Y., Marschall, Tobias, Kloosterman, Wigard P., Francioli, Laurent C., Baaijens, Jasmijn A., Dijkstra, Louis J., Abdellaoui, Abdel, Koval, Vyacheslav, Thung, Djie Tjwan, Wardenaar, René, Renkens, Ivo, Coe, Bradley P., Deelen, Patrick, De Ligt, Joep, Lameijer, Eric Wubbo, Van Dijk, Freerk, Hormozdiari, Fereydoun, Uitterlinden, André G., Van Duijn, Cornelia M., Eichler, Evan E., De Bakker, Paul I.W., Swertz, Morris A., Wijmenga, Cisca, Van Ommen, Gert Jan B, Slagboom, P. Eline, Boomsma, Dorret I., Schönhuth, Alexander, Ye, Kai, Guryev, Victor, Bovenberg, Jasper A., De Craen, Anton J M, Beekman, Marian, Hofman, Albert, Willemsen, Gonneke, Wolffenbuttel, Bruce, Platteel, Mathieu, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Cao, Rui, Sun, Yushen, Cao, Jeremy Sujie, Neerincx, Pieter B T, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Vermaat, Martijn, Laros, Jeroen F., den Dunnen, Johan T., De Knijff, Peter, Karssen, Lennart C., Van Leeuwen, Elisa M., Amin, Najaf, Rivadeneira, Fernando, Estrada, Karol, Hottenga, Jouke-Jan, Kattenberg, V. Mathijs, Van Enckevort, David, Mei, Hailiang, Santcroos, Mark, Van Schaik, Barbera D C, Handsaker, Robert E., McCarroll, Steven A., Ko, Arthur, Sudmant, Peter, Nijman, Isaac J., Genetica, CMM Groep Kloosterman, Child Health, Cancer, CMM Groep Kaaij, CMM Groep Cuppen, CMM Groep De Ridder, Epi Methoden Team 2, Infection & Immunity, Circulatory Health, Hubrecht Institute with UMC, Genetica Medische Informatica, Genetica Sectie Genoomdiagnostiek, Hehir-Kwa, Jayne Y., Marschall, Tobias, Kloosterman, Wigard P., Francioli, Laurent C., Baaijens, Jasmijn A., Dijkstra, Louis J., Abdellaoui, Abdel, Koval, Vyacheslav, Thung, Djie Tjwan, Wardenaar, René, Renkens, Ivo, Coe, Bradley P., Deelen, Patrick, De Ligt, Joep, Lameijer, Eric Wubbo, Van Dijk, Freerk, Hormozdiari, Fereydoun, Uitterlinden, André G., Van Duijn, Cornelia M., Eichler, Evan E., De Bakker, Paul I.W., Swertz, Morris A., Wijmenga, Cisca, Van Ommen, Gert Jan B, Slagboom, P. Eline, Boomsma, Dorret I., Schönhuth, Alexander, Ye, Kai, Guryev, Victor, Bovenberg, Jasper A., De Craen, Anton J M, Beekman, Marian, Hofman, Albert, Willemsen, Gonneke, Wolffenbuttel, Bruce, Platteel, Mathieu, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Cao, Rui, Sun, Yushen, Cao, Jeremy Sujie, Neerincx, Pieter B T, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Vermaat, Martijn, Laros, Jeroen F., den Dunnen, Johan T., De Knijff, Peter, Karssen, Lennart C., Van Leeuwen, Elisa M., Amin, Najaf, Rivadeneira, Fernando, Estrada, Karol, Hottenga, Jouke-Jan, Kattenberg, V. Mathijs, Van Enckevort, David, Mei, Hailiang, Santcroos, Mark, Van Schaik, Barbera D C, Handsaker, Robert E., McCarroll, Steven A., Ko, Arthur, Sudmant, Peter, and Nijman, Isaac J.
- Published
- 2016
19. A framework for the detection of de novo mutations in family-based sequencing data
- Author
-
CMM Groep Kaaij, UMC Utrecht, Circulatory Health, CMM Groep Kloosterman, Child Health, Cancer, Brain, Infection & Immunity, Francioli, Laurent C., Cretu-Stancu, Mircea, Garimella, Kiran V., Fromer, Menachem, Kloosterman, Wigard P., Samocha, Kaitlin E., Neale, Benjamin M., Daly, Mark J., Banks, Eric, DePristo, Mark A., de Bakker, Paul IW, CMM Groep Kaaij, UMC Utrecht, Circulatory Health, CMM Groep Kloosterman, Child Health, Cancer, Brain, Infection & Immunity, Francioli, Laurent C., Cretu-Stancu, Mircea, Garimella, Kiran V., Fromer, Menachem, Kloosterman, Wigard P., Samocha, Kaitlin E., Neale, Benjamin M., Daly, Mark J., Banks, Eric, DePristo, Mark A., and de Bakker, Paul IW
- Published
- 2016
20. The presence of extra chromosomes leads to genomic instability
- Author
-
Genetica, CMM Groep Kloosterman, Child Health, Cancer, Passerini, Verena, Ozeri-Galai, Efrat, De Pagter, Mirjam S., Donnelly, Neysan, Schmalbrock, Sarah, Kloosterman, Wigard P., Kerem, Batsheva, Storchová, Zuzana, Genetica, CMM Groep Kloosterman, Child Health, Cancer, Passerini, Verena, Ozeri-Galai, Efrat, De Pagter, Mirjam S., Donnelly, Neysan, Schmalbrock, Sarah, Kloosterman, Wigard P., Kerem, Batsheva, and Storchová, Zuzana
- Published
- 2016
21. Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels
- Author
-
Van Leeuwen, Elisabeth M., Karssen, Lennart C., Deelen, Joris, Isaacs, Aaron, Medina-Gomez, Carolina, Mbarek, Hamdi, Kanterakis, Alexandros, Trompet, Stella, Postmus, Iris, Verweij, Niek, Van Enckevort, David J., Huffman, Jennifer E., White, Charles C., Feitosa, Mary F., Bartz, Traci M., Manichaikul, Ani, Joshi, Peter K., Peloso, Gina M., Deelen, Patrick, Van Dijk, Freerk, Willemsen, Gonneke, De Geus, Eco J., Milaneschi, Yuri, Penninx, Brenda W J H, Francioli, Laurent C., Menelaou, Androniki, Pulit, Sara L., Rivadeneira, Fernando, Hofman, Albert, Oostra, Ben A., Franco, Oscar H., Leach, Irene Mateo, Beekman, Marian, De Craen, Anton J M, Uh, Hae Won, Trochet, Holly, Hocking, Lynne J., Porteous, David J., Sattar, Naveed, Packard, Chris J., Buckley, Brendan M., Brody, Jennifer A., Bis, Joshua C., Rotter, Jerome I., Mychaleckyj, Josyf C., Campbell, Harry, Duan, Qing, Lange, Leslie A., Wilson, James F., Hayward, Caroline, Polasek, Ozren, Vitart, Veronique, Rudan, Igor, Wright, Alan F., Rich, Stephen S., Psaty, Bruce M., Borecki, Ingrid B., Kearney, Patricia M., Stott, David J., Cupples, L. Adrienne, Jukema, J. Wouter, Van Der Harst, Pim, Sijbrands, Eric J., Hottenga, Jouke Jan, Uitterlinden, Andre G., Swertz, Morris A., Van Ommen, Gert Jan B, De Bakker, Paul I W, Eline Slagboom, P., Boomsma, Dorret I., Wijmenga, Cisca, Van Duijn, Cornelia M., Neerincx, Pieter B T, Elbers, Clara C., Palamara, Pier Francesco, Peer, Itsik, Abdellaoui, Abdel, Kloosterman, Wigard P., Van Oven, Mannis, Vermaat, Martijn, Li, Mingkun, Laros, Jeroen F J, Stoneking, Mark, De Knijff, Peter, Kayser, Manfred, Veldink, Jan H., Van Den Berg, Leonard H., Byelas, Heorhiy, Den Dunnen, Johan T., Dijkstra, Martijn, Amin, Najaf, Van Der Velde, K. Joeri, Van Setten, Jessica, Kattenberg, Mathijs, Van Schaik, Barbera D C, Bot, Jan, Nijman, Isaäc J., Mei, Hailiang, Koval, Vyacheslav, Ye, Kai, Lameijer, Eric Wubbo, Moed, Matthijs H., Hehir-Kwa, Jayne Y., Handsaker, Robert E., Sunyaev, Shamil R., Sohail, Mashaal, Hormozdiari, Fereydoun, Marschall, Tobias, Schönhuth, Alexander, Guryev, Victor, Suchiman, H. Eka D, Wolffenbuttel, Bruce H., Platteel, Mathieu, Pitts, Steven J., Potluri, Shobha, Cox, David R., Li, Qibin, Li, Yingrui, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Li, Ning, Cao, Sujie, Wang, Jun, Bovenberg, Jasper A., de Bakker, Paul I W, Van Leeuwen, Elisabeth M., Karssen, Lennart C., Deelen, Joris, Isaacs, Aaron, Medina-Gomez, Carolina, Mbarek, Hamdi, Kanterakis, Alexandros, Trompet, Stella, Postmus, Iris, Verweij, Niek, Van Enckevort, David J., Huffman, Jennifer E., White, Charles C., Feitosa, Mary F., Bartz, Traci M., Manichaikul, Ani, Joshi, Peter K., Peloso, Gina M., Deelen, Patrick, Van Dijk, Freerk, Willemsen, Gonneke, De Geus, Eco J., Milaneschi, Yuri, Penninx, Brenda W J H, Francioli, Laurent C., Menelaou, Androniki, Pulit, Sara L., Rivadeneira, Fernando, Hofman, Albert, Oostra, Ben A., Franco, Oscar H., Leach, Irene Mateo, Beekman, Marian, De Craen, Anton J M, Uh, Hae Won, Trochet, Holly, Hocking, Lynne J., Porteous, David J., Sattar, Naveed, Packard, Chris J., Buckley, Brendan M., Brody, Jennifer A., Bis, Joshua C., Rotter, Jerome I., Mychaleckyj, Josyf C., Campbell, Harry, Duan, Qing, Lange, Leslie A., Wilson, James F., Hayward, Caroline, Polasek, Ozren, Vitart, Veronique, Rudan, Igor, Wright, Alan F., Rich, Stephen S., Psaty, Bruce M., Borecki, Ingrid B., Kearney, Patricia M., Stott, David J., Cupples, L. Adrienne, Jukema, J. Wouter, Van Der Harst, Pim, Sijbrands, Eric J., Hottenga, Jouke Jan, Uitterlinden, Andre G., Swertz, Morris A., Van Ommen, Gert Jan B, De Bakker, Paul I W, Eline Slagboom, P., Boomsma, Dorret I., Wijmenga, Cisca, Van Duijn, Cornelia M., Neerincx, Pieter B T, Elbers, Clara C., Palamara, Pier Francesco, Peer, Itsik, Abdellaoui, Abdel, Kloosterman, Wigard P., Van Oven, Mannis, Vermaat, Martijn, Li, Mingkun, Laros, Jeroen F J, Stoneking, Mark, De Knijff, Peter, Kayser, Manfred, Veldink, Jan H., Van Den Berg, Leonard H., Byelas, Heorhiy, Den Dunnen, Johan T., Dijkstra, Martijn, Amin, Najaf, Van Der Velde, K. Joeri, Van Setten, Jessica, Kattenberg, Mathijs, Van Schaik, Barbera D C, Bot, Jan, Nijman, Isaäc J., Mei, Hailiang, Koval, Vyacheslav, Ye, Kai, Lameijer, Eric Wubbo, Moed, Matthijs H., Hehir-Kwa, Jayne Y., Handsaker, Robert E., Sunyaev, Shamil R., Sohail, Mashaal, Hormozdiari, Fereydoun, Marschall, Tobias, Schönhuth, Alexander, Guryev, Victor, Suchiman, H. Eka D, Wolffenbuttel, Bruce H., Platteel, Mathieu, Pitts, Steven J., Potluri, Shobha, Cox, David R., Li, Qibin, Li, Yingrui, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Li, Ning, Cao, Sujie, Wang, Jun, Bovenberg, Jasper A., and de Bakker, Paul I W
- Published
- 2015
22. Genome-wide patterns and properties of de novo mutations in humans
- Author
-
Francioli, Laurent C., Polak, Paz P., Koren, Amnon, Menelaou, A., Chun, Sung, Renkens, I.J., Van Duijn, Cornelia M., Swertz, Morris, Wijmenga, Cisca, Van Ommen, Gertjan, Slagboom, P. Eline, Boomsma, Dorret I., Ye, Kai, Guryev, Victor, Arndt, Peter F., Kloosterman, Wigard P., De Bakker, Paul I W, Sunyaev, Shamil R., Francioli, Laurent C., Polak, Paz P., Koren, Amnon, Menelaou, A., Chun, Sung, Renkens, I.J., Van Duijn, Cornelia M., Swertz, Morris, Wijmenga, Cisca, Van Ommen, Gertjan, Slagboom, P. Eline, Boomsma, Dorret I., Ye, Kai, Guryev, Victor, Arndt, Peter F., Kloosterman, Wigard P., De Bakker, Paul I W, and Sunyaev, Shamil R.
- Published
- 2015
23. Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels
- Author
-
CMM Groep Kaaij, CMM Groep Kloosterman, Child Health, Cancer, ZL Neuromusculaire Ziekten Medisch, Experimentele Afd. Cardiologie 1, CMM Groep Cuppen, JC onderzoeksprogramma Methodologie, Van Leeuwen, Elisabeth M., Karssen, Lennart C., Deelen, Joris, Isaacs, Aaron, Medina-Gomez, Carolina, Mbarek, Hamdi, Kanterakis, Alexandros, Trompet, Stella, Postmus, Iris, Verweij, Niek, Van Enckevort, David J., Huffman, Jennifer E., White, Charles C., Feitosa, Mary F., Bartz, Traci M., Manichaikul, Ani, Joshi, Peter K., Peloso, Gina M., Deelen, Patrick, Van Dijk, Freerk, Willemsen, Gonneke, De Geus, Eco J., Milaneschi, Yuri, Penninx, Brenda W J H, Francioli, Laurent C., Menelaou, Androniki, Pulit, Sara L., Rivadeneira, Fernando, Hofman, Albert, Oostra, Ben A., Franco, Oscar H., Leach, Irene Mateo, Beekman, Marian, De Craen, Anton J M, Uh, Hae Won, Trochet, Holly, Hocking, Lynne J., Porteous, David J., Sattar, Naveed, Packard, Chris J., Buckley, Brendan M., Brody, Jennifer A., Bis, Joshua C., Rotter, Jerome I., Mychaleckyj, Josyf C., Campbell, Harry, Duan, Qing, Lange, Leslie A., Wilson, James F., Hayward, Caroline, Polasek, Ozren, Vitart, Veronique, Rudan, Igor, Wright, Alan F., Rich, Stephen S., Psaty, Bruce M., Borecki, Ingrid B., Kearney, Patricia M., Stott, David J., Cupples, L. Adrienne, Jukema, J. Wouter, Van Der Harst, Pim, Sijbrands, Eric J., Hottenga, Jouke Jan, Uitterlinden, Andre G., Swertz, Morris A., Van Ommen, Gert Jan B, De Bakker, Paul I W, Eline Slagboom, P., Boomsma, Dorret I., Wijmenga, Cisca, Van Duijn, Cornelia M., Neerincx, Pieter B T, Elbers, Clara C., Palamara, Pier Francesco, Peer, Itsik, Abdellaoui, Abdel, Kloosterman, Wigard P., Van Oven, Mannis, Vermaat, Martijn, Li, Mingkun, Laros, Jeroen F J, Stoneking, Mark, De Knijff, Peter, Kayser, Manfred, Veldink, Jan H., Van Den Berg, Leonard H., Byelas, Heorhiy, Den Dunnen, Johan T., Dijkstra, Martijn, Amin, Najaf, Van Der Velde, K. Joeri, Van Setten, Jessica, Kattenberg, Mathijs, Van Schaik, Barbera D C, Bot, Jan, Nijman, Isaäc J., Mei, Hailiang, Koval, Vyacheslav, Ye, Kai, Lameijer, Eric Wubbo, Moed, Matthijs H., Hehir-Kwa, Jayne Y., Handsaker, Robert E., Sunyaev, Shamil R., Sohail, Mashaal, Hormozdiari, Fereydoun, Marschall, Tobias, Schönhuth, Alexander, Guryev, Victor, Suchiman, H. Eka D, Wolffenbuttel, Bruce H., Platteel, Mathieu, Pitts, Steven J., Potluri, Shobha, Cox, David R., Li, Qibin, Li, Yingrui, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Li, Ning, Cao, Sujie, Wang, Jun, Bovenberg, Jasper A., de Bakker, Paul I W, CMM Groep Kaaij, CMM Groep Kloosterman, Child Health, Cancer, ZL Neuromusculaire Ziekten Medisch, Experimentele Afd. Cardiologie 1, CMM Groep Cuppen, JC onderzoeksprogramma Methodologie, Van Leeuwen, Elisabeth M., Karssen, Lennart C., Deelen, Joris, Isaacs, Aaron, Medina-Gomez, Carolina, Mbarek, Hamdi, Kanterakis, Alexandros, Trompet, Stella, Postmus, Iris, Verweij, Niek, Van Enckevort, David J., Huffman, Jennifer E., White, Charles C., Feitosa, Mary F., Bartz, Traci M., Manichaikul, Ani, Joshi, Peter K., Peloso, Gina M., Deelen, Patrick, Van Dijk, Freerk, Willemsen, Gonneke, De Geus, Eco J., Milaneschi, Yuri, Penninx, Brenda W J H, Francioli, Laurent C., Menelaou, Androniki, Pulit, Sara L., Rivadeneira, Fernando, Hofman, Albert, Oostra, Ben A., Franco, Oscar H., Leach, Irene Mateo, Beekman, Marian, De Craen, Anton J M, Uh, Hae Won, Trochet, Holly, Hocking, Lynne J., Porteous, David J., Sattar, Naveed, Packard, Chris J., Buckley, Brendan M., Brody, Jennifer A., Bis, Joshua C., Rotter, Jerome I., Mychaleckyj, Josyf C., Campbell, Harry, Duan, Qing, Lange, Leslie A., Wilson, James F., Hayward, Caroline, Polasek, Ozren, Vitart, Veronique, Rudan, Igor, Wright, Alan F., Rich, Stephen S., Psaty, Bruce M., Borecki, Ingrid B., Kearney, Patricia M., Stott, David J., Cupples, L. Adrienne, Jukema, J. Wouter, Van Der Harst, Pim, Sijbrands, Eric J., Hottenga, Jouke Jan, Uitterlinden, Andre G., Swertz, Morris A., Van Ommen, Gert Jan B, De Bakker, Paul I W, Eline Slagboom, P., Boomsma, Dorret I., Wijmenga, Cisca, Van Duijn, Cornelia M., Neerincx, Pieter B T, Elbers, Clara C., Palamara, Pier Francesco, Peer, Itsik, Abdellaoui, Abdel, Kloosterman, Wigard P., Van Oven, Mannis, Vermaat, Martijn, Li, Mingkun, Laros, Jeroen F J, Stoneking, Mark, De Knijff, Peter, Kayser, Manfred, Veldink, Jan H., Van Den Berg, Leonard H., Byelas, Heorhiy, Den Dunnen, Johan T., Dijkstra, Martijn, Amin, Najaf, Van Der Velde, K. Joeri, Van Setten, Jessica, Kattenberg, Mathijs, Van Schaik, Barbera D C, Bot, Jan, Nijman, Isaäc J., Mei, Hailiang, Koval, Vyacheslav, Ye, Kai, Lameijer, Eric Wubbo, Moed, Matthijs H., Hehir-Kwa, Jayne Y., Handsaker, Robert E., Sunyaev, Shamil R., Sohail, Mashaal, Hormozdiari, Fereydoun, Marschall, Tobias, Schönhuth, Alexander, Guryev, Victor, Suchiman, H. Eka D, Wolffenbuttel, Bruce H., Platteel, Mathieu, Pitts, Steven J., Potluri, Shobha, Cox, David R., Li, Qibin, Li, Yingrui, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Li, Ning, Cao, Sujie, Wang, Jun, Bovenberg, Jasper A., and de Bakker, Paul I W
- Published
- 2015
24. Genome-wide patterns and properties of de novo mutations in humans
- Author
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CMM Groep Kaaij, Genetica, CMM Groep Kloosterman, Child Health, Cancer, Brain, Infection & Immunity, JC onderzoeksprogramma Methodologie, Circulatory Health, Francioli, Laurent C., Polak, Paz P., Koren, Amnon, Menelaou, A., Chun, Sung, Renkens, I.J., Van Duijn, Cornelia M., Swertz, Morris, Wijmenga, Cisca, Van Ommen, Gertjan, Slagboom, P. Eline, Boomsma, Dorret I., Ye, Kai, Guryev, Victor, Arndt, Peter F., Kloosterman, Wigard P., De Bakker, Paul I W, Sunyaev, Shamil R., CMM Groep Kaaij, Genetica, CMM Groep Kloosterman, Child Health, Cancer, Brain, Infection & Immunity, JC onderzoeksprogramma Methodologie, Circulatory Health, Francioli, Laurent C., Polak, Paz P., Koren, Amnon, Menelaou, A., Chun, Sung, Renkens, I.J., Van Duijn, Cornelia M., Swertz, Morris, Wijmenga, Cisca, Van Ommen, Gertjan, Slagboom, P. Eline, Boomsma, Dorret I., Ye, Kai, Guryev, Victor, Arndt, Peter F., Kloosterman, Wigard P., De Bakker, Paul I W, and Sunyaev, Shamil R.
- Published
- 2015
25. A framework for the detection of de novo mutations in family-based sequencing data
- Author
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Francioli, Laurent C, Cretu-Stancu, Mircea, Garimella, Kiran V, Fromer, Menachem, Kloosterman, Wigard P, Wijmenga, Cisca, Investigator, Principal, Swertz, Morris A, van Duijn, Cornelia M, Boomsma, Dorret I, Slagboom, PEline, van Ommen, Gertjan B, de Bakker, Paul IW, van Dijk, Freerk, Menelaou, Androniki, Neerincx, Pieter BT, Pulit, Sara L, Deelen, Patrick, Elbers, Clara C, Francesco Palamara, Pier, Pe'er, Itsik, Abdellaoui, Abdel, van Oven, Mannis, Vermaat, Martijn, Li, Mingkun, Laros, Jeroen FJ, Stoneking, Mark, de Knijff, Peter, Kayser, Manfred, Veldink, Jan H, van den Berg, Leonard H, Byelas, Heorhiy, den Dunnen, Johan T, Dijkstra, Martijn, Amin, Najaf, van der Velde, K Joeri, Hottenga, Jouke Jan, van Setten, Jessica, van Leeuwen, Elisabeth M, Kanterakis, Alexandros, Kattenberg, Mathijs, Karssen, Lennart C, van Schaik, Barbera DC, Bot, Jan, Nijman, Isaäc J, Renkens, Ivo, van Enckevort, David, Mei, Hailiang, Koval, Vyacheslav, Estrada, Karol, Medina-Gomez, Carolina, Ye, Kai, Lameijer, Eric-Wubbo, Moed, Matthijs H, Hehir-Kwa, Jayne Y, Handsaker, Robert E, McCarroll, Steven A, Sunyaev, Shamil R, Polak, Paz, Vuzman, Dana, Sohail, Mashaal, Hormozdiari, Fereydoun, Marschall, Tobias, Schönhuth, Alexander, Guryev, Victor, Slagboom, P Eline, Beekman, Marian B, de Craen, Anton JM, Suchiman, H Eka D, Hofman, Albert, Oostra, Ben, Isaacs, Aaron, Rivadeneira, Fernando, Uitterlinden, André G, Willemsen, Gonneke, Platteel, Mathieu, Pitts, Steven J, Potluri, Shobha, Sundar, Purnima, Cox, David R, Li, Qibin, Li, Yingrui, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Li, Ning, Cao, Sujie, Wang, Jun, Bovenberg, Jasper A, Brandsma, Margreet, Samocha, Kaitlin E, Neale, Benjamin M, Daly, Mark J, Banks, Eric, and DePristo, Mark A
- Abstract
Germline mutation detection from human DNA sequence data is challenging due to the rarity of such events relative to the intrinsic error rates of sequencing technologies and the uneven coverage across the genome. We developed PhaseByTransmission (PBT) to identify de novo single nucleotide variants and short insertions and deletions (indels) from sequence data collected in parent-offspring trios. We compute the joint probability of the data given the genotype likelihoods in the individual family members, the known familial relationships and a prior probability for the mutation rate. Candidate de novo mutations (DNMs) are reported along with their posterior probability, providing a systematic way to prioritize them for validation. Our tool is integrated in the Genome Analysis Toolkit and can be used together with the ReadBackedPhasing module to infer the parental origin of DNMs based on phase-informative reads. Using simulated data, we show that PBT outperforms existing tools, especially in low coverage data and on the X chromosome. We further show that PBT displays high validation rates on empirical parent-offspring sequencing data for whole-exome data from 104 trios and X-chromosome data from 249 parent-offspring families. Finally, we demonstrate an association between father's age at conception and the number of DNMs in female offspring's X chromosome, consistent with previous literature reports.
- Published
- 2016
- Full Text
- View/download PDF
26. Improved imputation quality of low-frequency and rare variants in European samples using the ‘Genome of The Netherlands'
- Author
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Deelen, Patrick, Menelaou, Androniki, van Leeuwen, Elisabeth M, Kanterakis, Alexandros, van Dijk, Freerk, Medina-Gomez, Carolina, Francioli, Laurent C, Hottenga, Jouke Jan, Karssen, Lennart C, Estrada, Karol, Kreiner-Møller, Eskil, Rivadeneira, Fernando, van Setten, Jessica, Gutierrez-Achury, Javier, Westra, Harm-Jan, Franke, Lude, van Enckevort, David, Dijkstra, Martijn, Byelas, Heorhiy, van Duijn, Cornelia M, Swertz, Morris A, Neerincx, Pieter B T, Pulit, Sara L, Elbers, Clara C, Francesco Palamara, Pier, Pe'er, Itsik, Abdellaoui, Abdel, Kloosterman, Wigard P, van Oven, Mannis, Vermaat, Martijn, Li, Mingkun, Laros, Jeroen F J, Stoneking, Mark, de Knijff, Peter, Kayser, Manfred, Veldink, Jan H, van den Berg, Leonard H, den Dunnen, Johan T, Amin, Najaf, van der Velde, K Joeri, Jan Hottenga, Jouke, Kattenberg, Mathijs, van Schaik, Barbera D C, Bot, Jan, Nijman, Isaäuc J, Mei, Hailiang, Koval, Vyacheslav, Ye, Kai, Lameijer, Eric-Wubbo, Moed, Matthijs H, Hehir-Kwa, Jayne Y, Handsaker, Robert E, Sunyaev, Shamil R, Sohail, Mashaal, Hormozdiari, Fereydoun, Marschall, Tobias, Marschall, Schönhuth, Guryev, Victor, de Bakker, Paul I W, Slagboom, P Eline, Beekman, Marian B, de Craen, Anton J M, Suchiman, H Eka D, Hofman, Albert, van Duijn, Cornelia, Boomsma, Dorret I, Willemsen, Gonneke, Wolffenbuttel, Bruce H, Platteel, Mathieu, Pitts, Steven J, Potluri, Shobha, Cox, David R, Li, Qibin, Li, Yingrui, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Li, Ning, Cao, Sujie, Wang, Jun, Bovenberg, Jasper A, committee, Steering, Wijmenga, Cisca, and van Ommen, Gertjan B
- Subjects
genotype imputation ,GWAS ,GoNL ,rare variants ,reference sets ,reference panel - Abstract
Although genome-wide association studies (GWAS) have identified many common variants associated with complex traits, low-frequency and rare variants have not been interrogated in a comprehensive manner. Imputation from dense reference panels, such as the 1000 Genomes Project (1000G), enables testing of ungenotyped variants for association. Here we present the results of imputation using a large, new population-specific panel: the Genome of The Netherlands (GoNL). We benchmarked the performance of the 1000G and GoNL reference sets by comparing imputation genotypes with ‘true' genotypes typed on ImmunoChip in three European populations (Dutch, British, and Italian). GoNL showed significant improvement in the imputation quality for rare variants (MAF 0.05–0.5%) compared with 1000G. In Dutch samples, the mean observed Pearson correlation, r2, increased from 0.61 to 0.71. We also saw improved imputation accuracy for other European populations (in the British samples, r2 improved from 0.58 to 0.65, and in the Italians from 0.43 to 0.47). A combined reference set comprising 1000G and GoNL improved the imputation of rare variants even further. The Italian samples benefitted the most from this combined reference (the mean r2 increased from 0.47 to 0.50). We conclude that the creation of a large population-specific reference is advantageous for imputing rare variants and that a combined reference panel across multiple populations yields the best imputation results.
- Published
- 2014
- Full Text
- View/download PDF
27. Confirmation of a metastasis-specific microRNA signature in primary colon cancer.
- Author
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Coebergh van den Braak RRJ, Sieuwerts AM, Lalmahomed ZS, Smid M, Wilting SM, Bril SI, Xiang S, van der Vlugt-Daane M, de Weerd V, van Galen A, Biermann K, van Krieken JHJM, Kloosterman WP, Foekens JA, Martens JWM, and IJzermans JNM
- Subjects
- Aged, Aged, 80 and over, Biomarkers, Tumor genetics, Chemotherapy, Adjuvant, Colonic Neoplasms diagnosis, Colonic Neoplasms drug therapy, Colonic Neoplasms pathology, Female, Gene Expression Profiling, Gene Expression Regulation, Neoplastic, Humans, Liver Neoplasms diagnosis, Liver Neoplasms drug therapy, Liver Neoplasms genetics, Male, Middle Aged, Neoplasm Metastasis diagnosis, Neoplasm Metastasis drug therapy, Neoplasm Recurrence, Local diagnosis, Neoplasm Recurrence, Local drug therapy, Neoplasm Recurrence, Local genetics, Neoplasm Recurrence, Local secondary, Prognosis, Prospective Studies, Colonic Neoplasms genetics, Liver Neoplasms secondary, MicroRNAs genetics, Neoplasm Metastasis genetics
- Abstract
The identification of patients with high-risk stage II colon cancer who may benefit from adjuvant therapy may allow the clinical approach to be tailored for these patients based on an understanding of tumour biology. MicroRNAs have been proposed as markers of the prognosis or treatment response in colorectal cancer. Recently, a 2-microRNA signature (let-7i and miR-10b) was proposed to identify colorectal cancer patients at risk of developing distant metastasis. We assessed the prognostic value of this signature and additional candidate microRNAs in an independent, clinically well-defined, prospectively collected cohort of primary colon cancer patients including stage I-II colon cancer without and stage III colon cancer with adjuvant treatment. The 2-microRNA signature specifically predicted hepatic recurrence in the stage I-II group, but not the overall ability to develop distant metastasis. The addition of miR-30b to the 2-microRNA signature allowed the prediction of both distant metastasis and hepatic recurrence in patients with stage I-II colon cancer who did not receive adjuvant chemotherapy. Available gene expression data allowed us to associate miR-30b expression with axon guidance and let-7i expression with cell adhesion, migration, and motility.
- Published
- 2018
- Full Text
- View/download PDF
28. Joubert syndrome: genotyping a Northern European patient cohort.
- Author
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Kroes HY, Monroe GR, van der Zwaag B, Duran KJ, de Kovel CG, van Roosmalen MJ, Harakalova M, Nijman IJ, Kloosterman WP, Giles RH, Knoers NV, and van Haaften G
- Subjects
- Abnormalities, Multiple epidemiology, Adaptor Proteins, Signal Transducing genetics, Adaptor Proteins, Vesicular Transport, Adolescent, Child, Child, Preschool, Cytoskeletal Proteins, Eye Abnormalities epidemiology, Female, Genotype, High-Throughput Nucleotide Sequencing, Humans, Infant, Kidney Diseases, Cystic epidemiology, Male, Membrane Proteins genetics, Proteins genetics, Young Adult, Abnormalities, Multiple diagnosis, Abnormalities, Multiple genetics, Cerebellum abnormalities, Eye Abnormalities diagnosis, Eye Abnormalities genetics, Genetic Counseling, Kidney Diseases, Cystic diagnosis, Kidney Diseases, Cystic genetics, Pathology, Molecular, Retina abnormalities
- Abstract
Joubert syndrome (JBS) is a rare neurodevelopmental disorder belonging to the group of ciliary diseases. JBS is genetically heterogeneous, with >20 causative genes identified to date. A molecular diagnosis of JBS is essential for prediction of disease progression and genetic counseling. We developed a targeted next-generation sequencing (NGS) approach for parallel sequencing of 22 known JBS genes plus 599 additional ciliary genes. This method was used to genotype a cohort of 51 well-phenotyped Northern European JBS cases (in some of the cases, Sanger sequencing of individual JBS genes had been performed previously). Altogether, 21 of the 51 cases (41%) harbored biallelic pathogenic mutations in known JBS genes, including 14 mutations not previously described. Mutations in C5orf42 (12%), TMEM67 (10%), and AHI1 (8%) were the most prevalent. C5orf42 mutations result in a purely neurological Joubert phenotype, in one case associated with postaxial polydactyly. Our study represents a population-based cohort of JBS patients not enriched for consanguinity, providing insight into the relative importance of the different JBS genes in a Northern European population. Mutations in C5orf42 are relatively frequent (possibly due to a Dutch founder mutation) and mutations in CEP290 are underrepresented compared with international cohorts. Furthermore, we report a case with heterozygous mutations in CC2D2A and B9D1, a gene associated with the more severe Meckel-Gruber syndrome that was recently published as a potential new JBS gene, and discuss the significance of this finding.
- Published
- 2016
- Full Text
- View/download PDF
29. Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.
- Author
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Vergult S, Van Binsbergen E, Sante T, Nowak S, Vanakker O, Claes K, Poppe B, Van der Aa N, van Roosmalen MJ, Duran K, Tavakoli-Yaraki M, Swinkels M, van den Boogaard MJ, van Haelst M, Roelens F, Speleman F, Cuppen E, Mortier G, Kloosterman WP, and Menten B
- Subjects
- Abnormalities, Multiple diagnosis, Chromosome Banding, Chromosome Duplication, Chromosomes, Human, Pair 18, Chromosomes, Human, Pair 21, Comparative Genomic Hybridization, Computational Biology, Female, Humans, Intellectual Disability diagnosis, Karyotype, Male, Recombination, Genetic, Abnormalities, Multiple genetics, Chromosome Aberrations, High-Throughput Nucleotide Sequencing, Intellectual Disability genetics
- Abstract
Recently, microarrays have replaced karyotyping as a first tier test in patients with idiopathic intellectual disability and/or multiple congenital abnormalities (ID/MCA) in many laboratories. Although in about 14-18% of such patients, DNA copy-number variants (CNVs) with clinical significance can be detected, microarrays have the disadvantage of missing balanced rearrangements, as well as providing no information about the genomic architecture of structural variants (SVs) like duplications and complex rearrangements. Such information could possibly lead to a better interpretation of the clinical significance of the SV. In this study, the clinical use of mate pair next-generation sequencing was evaluated for the detection and further characterization of structural variants within the genomes of 50 ID/MCA patients. Thirty of these patients carried a chromosomal aberration that was previously detected by array CGH or karyotyping and suspected to be pathogenic. In the remaining 20 patients no causal SVs were found and only benign aberrations were detected by conventional techniques. Combined cluster and coverage analysis of the mate pair data allowed precise breakpoint detection and further refinement of previously identified balanced and (complex) unbalanced aberrations, pinpointing the causal gene for some patients. We conclude that mate pair sequencing is a powerful technology that can provide rapid and unequivocal characterization of unbalanced and balanced SVs in patient genomes and can be essential for the clinical interpretation of some SVs.
- Published
- 2014
- Full Text
- View/download PDF
30. Discovery of variants unmasked by hemizygous deletions.
- Author
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Hochstenbach R, Poot M, Nijman IJ, Renkens I, Duran KJ, Van't Slot R, van Binsbergen E, van der Zwaag B, Vogel MJ, Terhal PA, Ploos van Amstel HK, Kloosterman WP, and Cuppen E
- Subjects
- Alleles, Computational Biology, DNA Copy Number Variations, Gene Library, Genes, Recessive, Genetic Testing methods, Genome, Human, Heat-Shock Proteins genetics, Humans, Inheritance Patterns, Intellectual Disability genetics, Phenotype, Sensitivity and Specificity, DNA Mutational Analysis methods, Gene Deletion, Gene Dosage, Hemizygote
- Abstract
Array-based genome-wide segmental aneuploidy screening detects both de novo and inherited copy number variations (CNVs). In sporadic patients de novo CNVs are interpreted as potentially pathogenic. However, a deletion, transmitted from a healthy parent, may be pathogenic if it overlaps with a mutated second allele inherited from the other healthy parent. To detect such events, we performed multiplex enrichment and next-generation sequencing of the entire coding sequence of all genes within unique hemizygous deletion regions in 20 patients (1.53 Mb capture footprint). Out of the detected 703 non-synonymous single-nucleotide variants (SNVs), 8 represented variants being unmasked by a hemizygous deletion. Although evaluation of inheritance patterns, Grantham matrix scores, evolutionary conservation and bioinformatic predictions did not consistently indicate pathogenicity of these variants, no definitive conclusions can be drawn without functional validation. However, in one patient with severe mental retardation, lack of speech, microcephaly, cheilognathopalatoschisis and bilateral hearing loss, we discovered a second smaller deletion, inherited from the other healthy parent, resulting in loss of both alleles of the highly conserved heat shock factor binding protein 1 (HSBP1) gene. Conceivably, inherited deletions may unmask rare pathogenic variants that may exert a phenotypic impact through a recessive mode of gene action.
- Published
- 2012
- Full Text
- View/download PDF
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