Search

Your search keyword '"Ruiz-Linares, Andrés"' showing total 333 results
Start Over Author "Ruiz-Linares, Andrés"
333 results on '"Ruiz-Linares, Andrés"'

1. PITX2 expression and Neanderthal introgression in HS3ST3A1 contribute to variation in tooth dimensions in modern humans

Author

Li, Qing, Faux, Pierre, Wentworth Winchester, Emma, Yang, Guangrui, Chen, Yingjie, Ramírez, Luis Miguel, Fuentes-Guajardo, Macarena, Poloni, Lauriane, Steimetz, Emilie, Gonzalez-José, Rolando, Acuña, Victor, Bortolini, Maria-Cátira, Poletti, Giovanni, Gallo, Carla, Rothhammer, Francisco, Rojas, Winston, Zheng, Youyi, Cox, James C., Patel, Vaishali, Hoffman, Matthew P., Ding, Li, Peng, Chenchen, Cotney, Justin, Navarro, Nicolas, Cox, Timothy C., Delgado, Miguel, Adhikari, Kaustubh, and Ruiz-Linares, Andrés

Published
2025
Full Text
View/download PDF

2. Neanderthal introgression in SCN9A impacts mechanical pain sensitivity

Author

Faux, Pierre, Ding, Li, Ramirez-Aristeguieta, Luis Miguel, Chacón-Duque, J. Camilo, Comini, Maddalena, Mendoza-Revilla, Javier, Fuentes-Guajardo, Macarena, Jaramillo, Claudia, Arias, William, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Barquera, Rodrigo, Everardo-Martínez, Paola, Quinto-Sánchez, Mirsha, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Silva de Cerqueira, Caio C., Hünemeier, Tábita, Ramallo, Virginia, Gonzalez-José, Rolando, Schüler-Faccini, Lavinia, Bortolini, Maria-Cátira, Acuña-Alonzo, Victor, Canizales-Quinteros, Samuel, Poletti, Giovanni, Gallo, Carla, Rothhammer, Francisco, Rojas, Winston, Schmid, Annina B., Adhikari, Kaustubh, Bennett, David L., and Ruiz-Linares, Andrés

Published
2023
Full Text
View/download PDF

3. Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape

Author

Li, Qing, Chen, Jieyi, Faux, Pierre, Delgado, Miguel Eduardo, Bonfante, Betty, Fuentes-Guajardo, Macarena, Mendoza-Revilla, Javier, Chacón-Duque, J. Camilo, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Jaramillo, Claudia, Arias, William, Barquera, Rodrigo, Everardo-Martínez, Paola, Sánchez-Quinto, Mirsha, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Silva de Cerqueira, Caio C., Hünemeier, Tábita, Ramallo, Virginia, Wu, Sijie, Du, Siyuan, Giardina, Andrea, Paria, Soumya Subhra, Khokan, Mahfuzur Rahman, Gonzalez-José, Rolando, Schüler-Faccini, Lavinia, Bortolini, Maria-Cátira, Acuña-Alonzo, Victor, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Rojas, Winston, Rothhammer, Francisco, Navarro, Nicolas, Wang, Sijia, Adhikari, Kaustubh, and Ruiz-Linares, Andrés

Published
2023
Full Text
View/download PDF

5. Sodium-calcium exchanger-3 regulates pain “wind-up”: From human psychophysics to spinal mechanisms

Author

Trendafilova, Teodora, Adhikari, Kaustubh, Schmid, Annina B., Patel, Ryan, Polgár, Erika, Chisholm, Kim I., Middleton, Steven J., Boyle, Kieran, Dickie, Allen C., Semizoglou, Evangelia, Perez-Sanchez, Jimena, Bell, Andrew M., Ramirez-Aristeguieta, Luis Miguel, Khoury, Samar, Ivanov, Aleksandar, Wildner, Hendrik, Ferris, Eleanor, Chacón-Duque, Juan-Camilo, Sokolow, Sophie, Saad Boghdady, Mohamed A., Herchuelz, André, Faux, Pierre, Poletti, Giovanni, Gallo, Carla, Rothhammer, Francisco, Bedoya, Gabriel, Zeilhofer, Hanns Ulrich, Diatchenko, Luda, McMahon, Stephen B., Todd, Andrew J., Dickenson, Anthony H., Ruiz-Linares, Andres, and Bennett, David L.

Published
2022
Full Text
View/download PDF

6. Clotting factor genes are associated with preeclampsia in high-altitude pregnant women in the Peruvian Andes

Author

Nieves-Colón, Maria A., Badillo Rivera, Keyla M., Sandoval, Karla, Villanueva Dávalos, Vanessa, Enriquez Lencinas, Luis E., Mendoza-Revilla, Javier, Adhikari, Kaustubh, González-Buenfil, Ram, Chen, Jessica W., Zhang, Elisa T., Sockell, Alexandra, Ortiz-Tello, Patricia, Hurtado, Gloria Malena, Condori Salas, Ramiro, Cebrecos, Ricardo, Manzaneda Choque, José C., Manzaneda Choque, Franz P., Yábar Pilco, Germán P., Rawls, Erin, Eng, Celeste, Huntsman, Scott, Burchard, Esteban, Ruiz-Linares, Andrés, González-José, Rolando, Bedoya, Gabriel, Rothhammer, Francisco, Bortolini, Maria Cátira, Poletti, Giovanni, Gallo, Carla, Bustamante, Carlos D., Baker, Julie C., Gignoux, Christopher R., Wojcik, Genevieve L., and Moreno-Estrada, Andrés

Published
2022
Full Text
View/download PDF

7. Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits—The Hispanic/Latino Anthropometry Consortium

Author

Fernández-Rhodes, Lindsay, Graff, Mariaelisa, Buchanan, Victoria L., Justice, Anne E., Highland, Heather M., Guo, Xiuqing, Zhu, Wanying, Chen, Hung-Hsin, Young, Kristin L., Adhikari, Kaustubh, Palmer, Nicholette D., Below, Jennifer E., Bradfield, Jonathan, Pereira, Alexandre C., Glover, LáShauntá, Kim, Daeeun, Lilly, Adam G., Shrestha, Poojan, Thomas, Alvin G., Zhang, Xinruo, Chen, Minhui, Chiang, Charleston W.K., Pulit, Sara, Horimoto, Andrea, Krieger, Jose E., Guindo-Martínez, Marta, Preuss, Michael, Schumann, Claudia, Smit, Roelof A.J., Torres-Mejía, Gabriela, Acuña-Alonzo, Victor, Bedoya, Gabriel, Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Gallo, Carla, González-José, Rolando, Poletti, Giovanni, Rothhammer, Francisco, Hakonarson, Hakon, Igo, Robert, Adler, Sharon G., Iyengar, Sudha K., Nicholas, Susanne B., Gogarten, Stephanie M., Isasi, Carmen R., Papnicolaou, George, Stilp, Adrienne M., Qi, Qibin, Kho, Minjung, Smith, Jennifer A., Langefeld, Carl D., Wagenknecht, Lynne, Mckean-Cowdin, Roberta, Gao, Xiaoyi Raymond, Nousome, Darryl, Conti, David V., Feng, Ye, Allison, Matthew A., Arzumanyan, Zorayr, Buchanan, Thomas A., Ida Chen, Yii-Der, Genter, Pauline M., Goodarzi, Mark O., Hai, Yang, Hsueh, Willa, Ipp, Eli, Kandeel, Fouad R., Lam, Kelvin, Li, Xiaohui, Nadler, Jerry L., Raffel, Leslie J., Roll, Kathryn, Sandow, Kevin, Tan, Jingyi, Taylor, Kent D., Xiang, Anny H., Yao, Jie, Audirac-Chalifour, Astride, de Jesus Peralta Romero, Jose, Hartwig, Fernando, Horta, Bernando, Blangero, John, Curran, Joanne E., Duggirala, Ravindranath, Lehman, Donna E., Puppala, Sobha, Fejerman, Laura, John, Esther M., Aguilar-Salinas, Carlos, Burtt, Noël P., Florez, Jose C., García-Ortíz, Humberto, González-Villalpando, Clicerio, Mercader, Josep, Orozco, Lorena, Tusié-Luna, Teresa, Blanco, Estela, Gahagan, Sheila, Cox, Nancy J., Hanis, Craig, Butte, Nancy F., Cole, Shelley A., Comuzzie, Anthony G., Voruganti, V. Saroja, Rohde, Rebecca, Wang, Yujie, Sofer, Tamar, Ziv, Elad, Grant, Struan F.A., Ruiz-Linares, Andres, Rotter, Jerome I., Haiman, Christopher A., Parra, Esteban J., Cruz, Miguel, Loos, Ruth J.F., and North, Kari E.

Published
2022
Full Text
View/download PDF

9. Understanding the Hidden Complexity of Latin American Population Isolates.

Author

Mooney, Jazlyn A, Huber, Christian D, Service, Susan, Sul, Jae Hoon, Marsden, Clare D, Zhang, Zhongyang, Sabatti, Chiara, Ruiz-Linares, Andrés, Bedoya, Gabriel, Costa Rica/Colombia Consortium for Genetic Investigation of Bipolar Endophenotypes, Freimer, Nelson, and Lohmueller, Kirk E

Subjects
Costa Rica/Colombia Consortium for Genetic Investigation of Bipolar Endophenotypes, Humans, Pedigree, Genetics, Population, Genomics, Consanguinity, Homozygote, Genome, Human, Costa Rica, Colombia, Female, Male, Whole Genome Sequencing, White People, deleterious mutations, identity by descent, linkage disequilibrium, pedigree, population genetics, population isolate, Genetics, Human Genome, Whites, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Most population isolates examined to date were founded from a single ancestral population. Consequently, there is limited knowledge about the demographic history of admixed population isolates. Here we investigate genomic diversity of recently admixed population isolates from Costa Rica and Colombia and compare their diversity to a benchmark population isolate, the Finnish. These Latin American isolates originated during the 16th century from admixture between a few hundred European males and Amerindian females, with a limited contribution from African founders. We examine whole-genome sequence data from 449 individuals, ascertained as families to build mutigenerational pedigrees, with a mean sequencing depth of coverage of approximately 36×. We find that Latin American isolates have increased genetic diversity relative to the Finnish. However, there is an increase in the amount of identity by descent (IBD) segments in the Latin American isolates relative to the Finnish. The increase in IBD segments is likely a consequence of a very recent and severe population bottleneck during the founding of the admixed population isolates. Furthermore, the proportion of the genome that falls within a long run of homozygosity (ROH) in Costa Rican and Colombian individuals is significantly greater than that in the Finnish, suggesting more recent consanguinity in the Latin American isolates relative to that seen in the Finnish. Lastly, we find that recent consanguinity increased the number of deleterious variants found in the homozygous state, which is relevant if deleterious variants are recessive. Our study suggests that there is no single genetic signature of a population isolate.

Published
2018

10. NNT mediates redox-dependent pigmentation via a UVB- and MITF-independent mechanism

Author

Allouche, Jennifer, Rachmin, Inbal, Adhikari, Kaustubh, Pardo, Luba M., Lee, Ju Hee, McConnell, Alicia M., Kato, Shinichiro, Fan, Shaohua, Kawakami, Akinori, Suita, Yusuke, Wakamatsu, Kazumasa, Igras, Vivien, Zhang, Jianming, Navarro, Paula P., Lugo, Camila Makhlouta, Noonan, Haley R., Christie, Kathleen A., Itin, Kaspar, Mujahid, Nisma, Lo, Jennifer A., Won, Chong Hyun, Evans, Conor L., Weng, Qing Yu, Wang, Hequn, Osseiran, Sam, Lovas, Alyssa, Németh, István, Cozzio, Antonio, Navarini, Alexander A., Hsiao, Jennifer J., Nguyen, Nhu, Kemény, Lajos V., Iliopoulos, Othon, Berking, Carola, Ruzicka, Thomas, Gonzalez-José, Rolando, Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Acuna-Alonso, Victor, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Ito, Shosuke, Schiaffino, Maria Vittoria, Chao, Luke H., Kleinstiver, Benjamin P., Tishkoff, Sarah, Zon, Leonard I., Nijsten, Tamar, Ruiz-Linares, Andrés, Fisher, David E., and Roider, Elisabeth

Published
2021
Full Text
View/download PDF

11. Prediction of eye, hair and skin colour in Latin Americans

Author

Palmal, Sagnik, Adhikari, Kaustubh, Mendoza-Revilla, Javier, Fuentes-Guajardo, Macarena, Silva de Cerqueira, Caio Cesar, Bonfante, Betty, Chacón-Duque, Juan Camilo, Sohail, Anood, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Jaramillo, Claudia, Arias, William, Lozano, Rodrigo Barquera, Everardo-Martínez, Paola, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Hünemeier, Tábita, Ramallo, Virginia, Parolin, Maria-Laura, Gonzalez-José, Rolando, Schüler-Faccini, Lavinia, Bortolini, Maria-Cátira, Acuña-Alonzo, Victor, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Balding, David, Faux, Pierre, and Ruiz-Linares, Andrés

Published
2021
Full Text
View/download PDF

12. How natural selection shapes genetic differentiation in the MHC region: A case study with Native Americans

Author

Nunes, Kelly, Maia, Maria Helena Thomaz, dos Santos, Eduardo José Melo, dos Santos, Sidney Emanuel Batista, Guerreiro, João Farias, Petzl-Erler, Maria Luiza, Bedoya, Gabriel, Gallo, Carla, Poletti, Giovanni, Llop, Elena, Tsuneto, Luiza, Bortolini, Maria Cátira, Rothhammer, Francisco, Single, Richard, Ruiz-Linares, Andrés, Rocha, Jorge, and Meyer, Diogo

Published
2021
Full Text
View/download PDF

13. Genome-wide mapping of brain phenotypes in extended pedigrees with strong genetic loading for bipolar disorder

Author

Fears, Scott C., Service, Susan K., Kremeyer, Barbara, Araya, Carmen, Araya, Xinia, Bejarano, Julio, Ramirez, Margarita, Castrillón, Gabriel, Gomez-Franco, Juliana, Lopez, Maria C., Montoya, Gabriel, Montoya, Patricia, Aldana, Ileana, Teshiba, Terri M., Al-Sharif, Noor B., Jalbrzikowski, Maria, Tishler, Todd A., Escobar, Javier, Ruiz-Linares, Andrés, Lopez-Jaramillo, Carlos, Macaya, Gabriel, Molina, Julio, Reus, Victor I., Cantor, Rita M., Sabatti, Chiara, Freimer, Nelson B., and Bearden, Carrie E.

Published
2021
Full Text
View/download PDF

14. Predicting haplogroups using a versatile machine learning program (PredYMaLe) on a new mutationally balanced 32 Y-STR multiplex (CombYplex): Unlocking the full potential of the human STR mutation rate spectrum to estimate forensic parameters

Author

Bouakaze, Caroline, Delehelle, Franklin, Saenz-Oyhéréguy, Nancy, Moreira, Andreia, Schiavinato, Stéphanie, Croze, Myriam, Delon, Solène, Fortes-Lima, Cesar, Gibert, Morgane, Bujan, Louis, Huyghe, Eric, Bellis, Gil, Calderon, Rosario, Hernández, Candela Lucia, Avendaño-Tamayo, Efren, Bedoya, Gabriel, Salas, Antonio, Mazières, Stéphane, Charioni, Jacques, Migot-Nabias, Florence, Ruiz-Linares, Andres, Dugoujon, Jean-Michel, Thèves, Catherine, Mollereau-Manaute, Catherine, Noûs, Camille, Poulet, Nicolas, King, Turi, D’Amato, Maria Eugenia, and Balaresque, Patricia

Published
2020
Full Text
View/download PDF

15. The immunogenetic diversity of the HLA system in Mexico correlates with underlying population genetic structure

Author

Barquera, Rodrigo, Hernández-Zaragoza, Diana Iraíz, Bravo-Acevedo, Alicia, Arrieta-Bolaños, Esteban, Clayton, Stephen, Acuña-Alonzo, Víctor, Martínez-Álvarez, Julio César, López-Gil, Concepción, Adalid-Sáinz, Carmen, Vega-Martínez, María del Rosario, Escobedo-Ruíz, Araceli, Juárez-Cortés, Eva Dolores, Immel, Alexander, Pacheco-Ubaldo, Hanna, González-Medina, Liliana, Lona-Sánchez, Abraham, Lara-Riegos, Julio, Sánchez-Fernández, María Guadalupe de Jesús, Díaz-López, Rosario, Guizar-López, Gregorio Ulises, Medina-Escobedo, Carolina Elizabeth, Arrazola-García, María Araceli, Montiel-Hernández, Gustavo Daniel, Hernández-Hernández, Ofelia, Ramos-de la Cruz, Flor del Rocío, Juárez-Nicolás, Francisco, Pantoja-Torres, Jorge Arturo, Rodríguez-Munguía, Tirzo Jesús, Juárez-Barreto, Vicencio, Delgado-Aguirre, Héctor, Escutia-González, Ariadna Berenice, Goné-Vázquez, Isis, Benítez-Arvizu, Gamaliel, Arellano-Prado, Francia Paulina, García-Arias, Víctor Eduardo, Rodríguez-López, Marla Estefanía, Méndez-Mani, Patricia, García-Álvarez, Raquel, González-Martínez, Marisela del Rocío, Aquino-Rubio, Guadalupe, Escareño-Montiel, Néstor, Vázquez-Castillo, Tannya Verónica, Uribe-Duarte, María Guadalupe, Ruíz-Corral, María de Jesús, Ortega-Yáñez, Andrea, Bernal-Felipe, Natalia, Gómez-Navarro, Benjamín, Arriaga-Perea, Agustín Jericó, Martínez-Bezies, Virginia, Macías-Medrano, Rosa María, Aguilar-Campos, Jesús Abraham, Solís-Martínez, Raúl, Serrano-Osuna, Ricardo, Sandoval-Sandoval, Mario J., Jaramillo-Rodríguez, Yolanda, Salgado-Adame, Antonio, Juárez-de la Cruz, Federico, Novelo-Garza, Bárbara, Pavón-Vargas, María de los Ángeles, Salgado-Galicia, Norma, Bortolini, Maria Cátira, Gallo, Carla, Bedoya, Gabriel, Rothhammer, Francisco, González-José, Rolando, Ruiz-Linares, Andrés, Canizales-Quinteros, Samuel, Romero-Hidalgo, Sandra, Krause, Johannes, Zúñiga, Joaquín, Yunis, Edmond J., Bekker-Méndez, Carolina, and Granados, Julio

Published
2020
Full Text
View/download PDF

16. Ancient human genomes suggest three ancestral populations for present-day Europeans

Author

Lazaridis, Iosif, Patterson, Nick, Mittnik, Alissa, Renaud, Gabriel, Mallick, Swapan, Kirsanow, Karola, Sudmant, Peter H., Schraiber, Joshua G., Castellano, Sergi, Lipson, Mark, Berger, Bonnie, Economou, Christos, Bollongino, Ruth, Fu, Qiaomei, Bos, Kirsten I., Nordenfelt, Susanne, Li, Heng, de Filippo, Cesare, Prüfer, Kay, Sawyer, Susanna, Posth, Cosimo, Haak, Wolfgang, Hallgren, Fredrik, Fornander, Elin, Rohland, Nadin, Delsate, Dominique, Francken, Michael, Guinet, Jean-Michel, Wahl, Joachim, Ayodo, George, Babiker, Hamza A., Bailliet, Graciela, Balanovska, Elena, Balanovsky, Oleg, Barrantes, Ramiro, Bedoya, Gabriel, Ben-Ami, Haim, Bene, Judit, Berrada, Fouad, Bravi, Claudio M., Brisighelli, Francesca, Busby, George, Cali, Francesco, Churnosov, Mikhail, Cole, David E. C., Corach, Daniel, Damba, Larissa, van Driem, George, Dryomov, Stanislav, Dugoujon, Jean-Michel, Fedorova, Sardana A., Romero, Irene Gallego, Gubina, Marina, Hammer, Michael, Henn, Brenna, Hervig, Tor, Hodoglugil, Ugur, Jha, Aashish R., Karachanak-Yankova, Sena, Khusainova, Rita, Khusnutdinova, Elza, Kittles, Rick, Kivisild, Toomas, Klitz, William, Kučinskas, Vaidutis, Kushniarevich, Alena, Laredj, Leila, Litvinov, Sergey, Loukidis, Theologos, Mahley, Robert W., Melegh, Béla, Metspalu, Ene, Molina, Julio, Mountain, Joanna, Näkkäläjärvi, Klemetti, Nesheva, Desislava, Nyambo, Thomas, Osipova, Ludmila, Parik, Jüri, Platonov, Fedor, Posukh, Olga, Romano, Valentino, Rothhammer, Francisco, Rudan, Igor, Ruizbakiev, Ruslan, Sahakyan, Hovhannes, Sajantila, Antti, Salas, Antonio, Starikovskaya, Elena B., Tarekegn, Ayele, Toncheva, Draga, Turdikulova, Shahlo, Uktveryte, Ingrida, Utevska, Olga, Vasquez, René, Villena, Mercedes, Voevoda, Mikhail, Winkler, Cheryl, Yepiskoposyan, Levon, Zalloua, Pierre, Zemunik, Tatijana, Cooper, Alan, Capelli, Cristian, Thomas, Mark G., Ruiz-Linares, Andres, Tishkoff, Sarah A., Singh, Lalji, Thangaraj, Kumarasamy, Villems, Richard, Comas, David, Sukernik, Rem, Metspalu, Mait, Meyer, Matthias, Eichler, Evan E., Burger, Joachim, Slatkin, Montgomery, Pääbo, Svante, Kelso, Janet, Reich, David, and Krause, Johannes

Subjects
Quantitative Biology - Populations and Evolution
Abstract

We sequenced genomes from a $\sim$7,000 year old early farmer from Stuttgart in Germany, an $\sim$8,000 year old hunter-gatherer from Luxembourg, and seven $\sim$8,000 year old hunter-gatherers from southern Sweden. We analyzed these data together with other ancient genomes and 2,345 contemporary humans to show that the great majority of present-day Europeans derive from at least three highly differentiated populations: West European Hunter-Gatherers (WHG), who contributed ancestry to all Europeans but not to Near Easterners; Ancient North Eurasians (ANE), who were most closely related to Upper Paleolithic Siberians and contributed to both Europeans and Near Easterners; and Early European Farmers (EEF), who were mainly of Near Eastern origin but also harbored WHG-related ancestry. We model these populations' deep relationships and show that EEF had $\sim$44% ancestry from a "Basal Eurasian" lineage that split prior to the diversification of all other non-African lineages.

Published
2013
Full Text
View/download PDF

17. Reconstructing Native American Migrations from Whole-genome and Whole-exome Data

Author

Gravel, Simon, Zakharia, Fouad, Moreno-Estrada, Andres, Byrnes, Jake K, Muzzio, Marina, Rodriguez-Flores, Juan L., Kenny, Eimear E., Gignoux, Christopher R., Maples, Brian K., Guiblet, Wilfried, Dutil, Julie, Via, Marc, Sandoval, Karla, Bedoya, Gabriel, Oleksyk, Taras K, Ruiz-Linares, Andres, Burchard, Esteban G, Martinez-Cruzado, Juan Carlos, Bustamante, Carlos D., and Project, The 1000 Genomes

Subjects
Quantitative Biology - Populations and Evolution, Quantitative Biology - Genomics, 92D25
Abstract

There is great scientific and popular interest in understanding the genetic history of populations in the Americas. We wish to understand when different regions of the continent were inhabited, where settlers came from, and how current inhabitants relate genetically to earlier populations. Recent studies unraveled parts of the genetic history of the continent using genotyping arrays and uniparental markers. The 1000 Genomes Project provides a unique opportunity for improving our understanding of population genetic history by providing over a hundred sequenced low coverage genomes and exomes from Colombian (CLM), Mexican-American (MXL), and Puerto Rican (PUR) populations. Here, we explore the genomic contributions of African, European, and Native American ancestry to these populations. Estimated Native American ancestry is 48% in MXL, 25% in CLM, and 13% in PUR. Native American ancestry in PUR is most closely related to populations surrounding the Orinoco River basin, confirming the Southern America ancestry of the Ta\'ino people of the Caribbean. We present new methods to estimate the allele frequencies in the Native American fraction of the populations, and model their distribution using a demographic model for three ancestral Native American populations. These ancestral populations likely split in close succession: the most likely scenario, based on a peopling of the Americas 16 thousand years ago (kya), supports that the MXL Ancestors split 12.2kya, with a subsequent split of the ancestors to CLM and PUR 11.7kya. The model also features effective populations of 62,000 in Mexico, 8,700 in Colombia, and 1,900 in Puerto Rico. Modeling Identity-by-descent and ancestry tract length, we show that post-contact populations differ markedly in their effective sizes and migration patterns, with Puerto Rico showing the smallest effective size and the earlier migration from Europe., Comment: 30 pages, inludes supplement. v2 contains clarifications, extra analyses, and a change in the language classification scheme used

Published
2013

18. The impact of socioeconomic and phenotypic traits on self-perception of ethnicity in Latin America

Author

Paschetta, Carolina, de Azevedo, Soledad, Ramallo, Virginia, Cintas, Celia, Pérez, Orlando, Navarro, Pablo, Bandieri, Lucas, Sánchez, Mirsha Quinto, Adhikari, Kaustubh, Bortolini, M. Catira, Ferrara, Giovanni Poletti, Gallo, Carla, Bedoya, Gabriel, Rothhammer, Francisco, Alonzo, Victor Acuña, Ruiz-Linares, Andrés, and González-José, Rolando

Published
2021
Full Text
View/download PDF

19. Genetic contributors to serum uric acid levels in Mexicans and their effect on premature coronary artery disease

Author

Macias-Kauffer, Luis R., Villamil-Ramírez, Hugo, León-Mimila, Paola, Jacobo-Albavera, Leonor, Posadas-Romero, Carlos, Posadas-Sánchez, Rosalinda, López-Contreras, Blanca E., Morán-Ramos, Sofía, Romero-Hidalgo, Sandra, Acuña-Alonzo, Víctor, del-Río-Navarro, Blanca E., Bortolini, Maria-Cátira, Gallo, Carla, Bedoya, Gabriel, Rothhammer, Francisco, González-Jose, Rolando, Ruiz-Linares, Andrés, Stephens, Christopher R., Velazquez-Cruz, Rafael, Fernández del Valle-Laisequilla, Cecilia, Reyes-García, Juan G., Barranco Garduño, Lina M., Carrasco-Portugal, Miriam del C., Flores-Murrieta, Francisco J., Vargas-Alarcón, Gilberto, Aguilar-Salinas, Carlos A., Villarreal-Molina, Teresa, and Canizales-Quinteros, Samuel

Published
2019
Full Text
View/download PDF

20. The genetics of Mexico recapitulates Native American substructure and affects biomedical traits

Author

Moreno-Estrada, Andrés, Gignoux, Christopher R, Fernández-López, Juan Carlos, Zakharia, Fouad, Sikora, Martin, Contreras, Alejandra V, Acuña-Alonzo, Victor, Sandoval, Karla, Eng, Celeste, Romero-Hidalgo, Sandra, Ortiz-Tello, Patricia, Robles, Victoria, Kenny, Eimear E, Nuño-Arana, Ismael, Barquera-Lozano, Rodrigo, Macín-Pérez, Gastón, Granados-Arriola, Julio, Huntsman, Scott, Galanter, Joshua M, Via, Marc, Ford, Jean G, Chapela, Rocío, Rodriguez-Cintron, William, Rodríguez-Santana, Jose R, Romieu, Isabelle, Sienra-Monge, Juan José, del Rio Navarro, Blanca, London, Stephanie J, Ruiz-Linares, Andrés, Garcia-Herrera, Rodrigo, Estrada, Karol, Hidalgo-Miranda, Alfredo, Jimenez-Sanchez, Gerardo, Carnevale, Alessandra, Soberón, Xavier, Canizales-Quinteros, Samuel, Rangel-Villalobos, Héctor, Silva-Zolezzi, Irma, Burchard, Esteban Gonzalez, and Bustamante, Carlos D

Subjects
Biological Sciences, Anthropology, Genetics, Human Society, American Indian or Alaska Native, Health Disparities, Minority Health, Human Genome, Biotechnology, Black People, Genetic Variation, Genome, Human, Humans, Indians, North American, Mexican Americans, Mexico, Population, White People, General Science & Technology
Abstract

Mexico harbors great cultural and ethnic diversity, yet fine-scale patterns of human genome-wide variation from this region remain largely uncharacterized. We studied genomic variation within Mexico from over 1000 individuals representing 20 indigenous and 11 mestizo populations. We found striking genetic stratification among indigenous populations within Mexico at varying degrees of geographic isolation. Some groups were as differentiated as Europeans are from East Asians. Pre-Columbian genetic substructure is recapitulated in the indigenous ancestry of admixed mestizo individuals across the country. Furthermore, two independently phenotyped cohorts of Mexicans and Mexican Americans showed a significant association between subcontinental ancestry and lung function. Thus, accounting for fine-scale ancestry patterns is critical for medical and population genetic studies within Mexico, in Mexican-descent populations, and likely in many other populations worldwide.

Published
2014

21. Multisystem component phenotypes of bipolar disorder for genetic investigations of extended pedigrees.

Author

Fears, Scott C, Service, Susan K, Kremeyer, Barbara, Araya, Carmen, Araya, Xinia, Bejarano, Julio, Ramirez, Margarita, Castrillón, Gabriel, Gomez-Franco, Juliana, Lopez, Maria C, Montoya, Gabriel, Montoya, Patricia, Aldana, Ileana, Teshiba, Terri M, Abaryan, Zvart, Al-Sharif, Noor B, Ericson, Marissa, Jalbrzikowski, Maria, Luykx, Jurjen J, Navarro, Linda, Tishler, Todd A, Altshuler, Lori, Bartzokis, George, Escobar, Javier, Glahn, David C, Ospina-Duque, Jorge, Risch, Neil, Ruiz-Linares, Andrés, Thompson, Paul M, Cantor, Rita M, Lopez-Jaramillo, Carlos, Macaya, Gabriel, Molina, Julio, Reus, Victor I, Sabatti, Chiara, Freimer, Nelson B, and Bearden, Carrie E

Subjects
Brain, Cerebral Cortex, Humans, Genetic Predisposition to Disease, Magnetic Resonance Imaging, Organ Size, Pedigree, Temperament, Bipolar Disorder, Neuropsychological Tests, Phenotype, Adult, Female, Male, Statistics as Topic, Genetic Linkage, Neurosciences, Clinical Research, Behavioral and Social Science, Human Genome, Brain Disorders, Genetics, Basic Behavioral and Social Science, Mental Health, Genetic Testing, 2.1 Biological and endogenous factors, Aetiology, Mental health, Other Medical and Health Sciences, Psychology, Cognitive Sciences
Abstract

ImportanceGenetic factors contribute to risk for bipolar disorder (BP), but its pathogenesis remains poorly understood. A focus on measuring multisystem quantitative traits that may be components of BP psychopathology may enable genetic dissection of this complex disorder, and investigation of extended pedigrees from genetically isolated populations may facilitate the detection of specific genetic variants that affect BP as well as its component phenotypes.ObjectiveTo identify quantitative neurocognitive, temperament-related, and neuroanatomical phenotypes that appear heritable and associated with severe BP (bipolar I disorder [BP-I]) and therefore suitable for genetic linkage and association studies aimed at identifying variants contributing to BP-I risk.Design, setting, and participantsMultigenerational pedigree study in 2 closely related, genetically isolated populations: the Central Valley of Costa Rica and Antioquia, Colombia. A total of 738 individuals, all from Central Valley of Costa Rica and Antioquia pedigrees, participated; among them, 181 have BP-I.Main outcomes and measuresFamilial aggregation (heritability) and association with BP-I of 169 quantitative neurocognitive, temperament, magnetic resonance imaging, and diffusion tensor imaging phenotypes.ResultsOf 169 phenotypes investigated, 126 (75%) were significantly heritable and 53 (31%) were associated with BP-I. About one-quarter of the phenotypes, including measures from each phenotype domain, were both heritable and associated with BP-I. Neuroimaging phenotypes, particularly cortical thickness in prefrontal and temporal regions as well as volume and microstructural integrity of the corpus callosum, represented the most promising candidate traits for genetic mapping related to BP based on strong heritability and association with disease. Analyses of phenotypic and genetic covariation identified substantial correlations among the traits, at least some of which share a common underlying genetic architecture.Conclusions and relevanceTo our knowledge, this is the most extensive investigation of BP-relevant component phenotypes to date. Our results identify brain and behavioral quantitative traits that appear to be genetically influenced and show a pattern of BP-I association within families that is consistent with expectations from case-control studies. Together, these phenotypes provide a basis for identifying loci contributing to BP-I risk and for genetic dissection of the disorder.

Published
2014

22. Understanding the Hidden Complexity of Latin American Population Isolates

Author

Fears, Scott C., Service, Susan K., Kremeyer, Barbara, Lic, Carmen Araya, Lic, Xinia Araya, Bejarano, Julio, Lic, Margarita Ramirez, Castrillón, Gabriel, Lopez, Maria C., Montoya, Gabriel, Montoya, Patricia, Teshiba, Terri M., Altshuler, Lori, Bartzokis, George, Escobar, Javier, Ospina-Duque, Jorge, Risch, Neil, Ruiz-Linares, Andrés, Cantor, Rita M., Lopez-Jaramillo, Carlos, Macaya, Gabriel, Molina, Julio, Reus, Victor I., Sabatti, Chiara, Freimer, Nelson B., Bearden, Carrie E., Sul, Jae Hoon, Huang, Alden Y., Ramensky, Vasily, Hwang, Sun-Goo, Park, YoungJun, Zhang, Zhongyang, Olde Loohuis, Loes M., Spesny, Mitzi, Gomez-Makhinson, Juliana, Bedoya, Gabriel, Coppola, Giovanni, Mooney, Jazlyn A., Huber, Christian D., Service, Susan, Marsden, Clare D., Freimer, Nelson, and Lohmueller, Kirk E.

Published
2018
Full Text
View/download PDF

23. CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1.

Author

Nag, Abhishek, Bochukova, Elena, Kremeyer, Barbara, Campbell, Desmond, Muller, Heike, Valencia-Duarte, Ana, Cardona, Julio, Rivas, Isabel, Mesa, Sandra, Cuartas, Mauricio, Garcia, Jharley, Bedoya, Gabriel, Cornejo, William, Herrera, Luis, Romero, Roxana, Fournier, Eduardo, McGrath, Lauren, Yu, Dongmei, Cook, Ed, Wang, Kai, Scharf, Jeremiah, Pauls, David, Plagnol, Vincent, Ruiz-Linares, Andrés, Farooqi, I, Reus, Victor, Mathews, Carol, Lowe, Thomas, and Freimer, Nelson

Subjects
Adolescent, Calcium-Binding Proteins, Cell Adhesion Molecules, Neuronal, Child, Collagen Type IX, DNA Copy Number Variations, Female, Genetic Predisposition to Disease, Genotype, Humans, Male, Nerve Tissue Proteins, Neural Cell Adhesion Molecules, Polymorphism, Single Nucleotide, Tourette Syndrome
Abstract

Tourette syndrome (TS) is a neuropsychiatric disorder with a strong genetic component. However, the genetic architecture of TS remains uncertain. Copy number variation (CNV) has been shown to contribute to the genetic make-up of several neurodevelopmental conditions, including schizophrenia and autism. Here we describe CNV calls using SNP chip genotype data from an initial sample of 210 TS cases and 285 controls ascertained in two Latin American populations. After extensive quality control, we found that cases (N = 179) have a significant excess (P = 0.006) of large CNV (>500 kb) calls compared to controls (N = 234). Amongst 24 large CNVs seen only in the cases, we observed four duplications of the COL8A1 gene region. We also found two cases with ∼400 kb deletions involving NRXN1, a gene previously implicated in neurodevelopmental disorders, including TS. Follow-up using multiplex ligation-dependent probe amplification (and including 53 more TS cases) validated the CNV calls and identified additional patients with rearrangements in COL8A1 and NRXN1, but none in controls. Examination of available parents indicates that two out of three NRXN1 deletions detected in the TS cases are de-novo mutations. Our results are consistent with the proposal that rare CNVs play a role in TS aetiology and suggest a possible role for rearrangements in the COL8A1 and NRXN1 gene regions.

Published
2013

24. Reconstructing Native American population history

Author

Reich, David, Patterson, Nick, Campbell, Desmond, Tandon, Arti, Mazieres, Stéphane, Ray, Nicolas, Parra, Maria V, Rojas, Winston, Duque, Constanza, Mesa, Natalia, García, Luis F, Triana, Omar, Blair, Silvia, Maestre, Amanda, Dib, Juan C, Bravi, Claudio M, Bailliet, Graciela, Corach, Daniel, Hünemeier, Tábita, Bortolini, Maria Cátira, Salzano, Francisco M, Petzl-Erler, María Luiza, Acuña-Alonzo, Victor, Aguilar-Salinas, Carlos, Canizales-Quinteros, Samuel, Tusié-Luna, Teresa, Riba, Laura, Rodríguez-Cruz, Maricela, Lopez-Alarcón, Mardia, Coral-Vazquez, Ramón, Canto-Cetina, Thelma, Silva-Zolezzi, Irma, Fernandez-Lopez, Juan Carlos, Contreras, Alejandra V, Jimenez-Sanchez, Gerardo, Gómez-Vázquez, Maria José, Molina, Julio, Carracedo, Ángel, Salas, Antonio, Gallo, Carla, Poletti, Giovanni, Witonsky, David B, Alkorta-Aranburu, Gorka, Sukernik, Rem I, Osipova, Ludmila, Fedorova, Sardana A, Vasquez, René, Villena, Mercedes, Moreau, Claudia, Barrantes, Ramiro, Pauls, David, Excoffier, Laurent, Bedoya, Gabriel, Rothhammer, Francisco, Dugoujon, Jean-Michel, Larrouy, Georges, Klitz, William, Labuda, Damian, Kidd, Judith, Kidd, Kenneth, Di Rienzo, Anna, Freimer, Nelson B, Price, Alkes L, and Ruiz-Linares, Andrés

Subjects
Biological Sciences, Genetics, History, Heritage and Archaeology, Human Society, Historical Studies, Anthropology, American Indian or Alaska Native, Americas, Asia, Cluster Analysis, Emigration and Immigration, Gene Flow, Genetics, Population, History, Ancient, Humans, Indians, North American, Models, Genetic, Phylogeny, Polymorphism, Single Nucleotide, Siberia, General Science & Technology
Abstract

The peopling of the Americas has been the subject of extensive genetic, archaeological and linguistic research; however, central questions remain unresolved. One contentious issue is whether the settlement occurred by means of a single migration or multiple streams of migration from Siberia. The pattern of dispersals within the Americas is also poorly understood. To address these questions at a higher resolution than was previously possible, we assembled data from 52 Native American and 17 Siberian groups genotyped at 364,470 single nucleotide polymorphisms. Here we show that Native Americans descend from at least three streams of Asian gene flow. Most descend entirely from a single ancestral population that we call 'First American'. However, speakers of Eskimo-Aleut languages from the Arctic inherit almost half their ancestry from a second stream of Asian gene flow, and the Na-Dene-speaking Chipewyan from Canada inherit roughly one-tenth of their ancestry from a third stream. We show that the initial peopling followed a southward expansion facilitated by the coast, with sequential population splits and little gene flow after divergence, especially in South America. A major exception is in Chibchan speakers on both sides of the Panama isthmus, who have ancestry from both North and South America.

Published
2012

26. Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment

Author

Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hinds, David A., Hromatka, Bethann S., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McIntyre, Matthew H., Mountain, Joanna L., Noblin, Elizabeth S., 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., Shaffer, John R., Li, Jinxi, Lee, Myoung Keun, Roosenboom, Jasmien, Orlova, Ekaterina, Adhikari, Kaustabh, Gallo, Carla, Poletti, Giovanni, Schuler-Faccini, Lavinia, Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Rothhammer, Francisco, Bedoya, Gabriel, González-José, Rolando, Pfeffer, Paige E., Wollenschlaeger, Christopher A., Hecht, Jacqueline T., Wehby, George L., Moreno, Lina M., Ding, Anan, Jin, Li, Yang, Yajun, Carlson, Jenna C., Leslie, Elizabeth J., Feingold, Eleanor, Marazita, Mary L., Cox, Timothy C., Wang, Sijia, Ruiz-Linares, Andrés, and Weinberg, Seth M.

Published
2017
Full Text
View/download PDF

27. Genome-wide Ancestry and Demographic History of African-Descendant Maroon Communities from French Guiana and Suriname

Author

Fortes-Lima, Cesar, Gessain, Antoine, Ruiz-Linares, Andres, Bortolini, Maria-Cátira, Migot-Nabias, Florence, Bellis, Gil, Moreno-Mayar, J. Víctor, Restrepo, Berta Nelly, Rojas, Winston, Avendaño-Tamayo, Efren, Bedoya, Gabriel, Orlando, Ludovic, Salas, Antonio, Helgason, Agnar, Gilbert, M. Thomas P., Sikora, Martin, Schroeder, Hannes, and Dugoujon, Jean-Michel

Published
2017
Full Text
View/download PDF

28. Geographic patterns of genome admixture in Latin American Mestizos.

Author

Wang, Sijia, Ray, Nicolas, Rojas, Winston, Parra, Maria V, Bedoya, Gabriel, Gallo, Carla, Poletti, Giovanni, Mazzotti, Guido, Hill, Kim, Hurtado, Ana M, Camrena, Beatriz, Nicolini, Humberto, Klitz, William, Barrantes, Ramiro, Molina, Julio A, Freimer, Nelson B, Bortolini, Maria Cátira, Salzano, Francisco M, Petzl-Erler, Maria L, Tsuneto, Luiza T, Dipierri, José E, Alfaro, Emma L, Bailliet, Graciela, Bianchi, Nestor O, Llop, Elena, Rothhammer, Francisco, Excoffier, Laurent, and Ruiz-Linares, Andrés

Subjects
Chromosomes, Human, X, Humans, Genetics, Population, Microsatellite Repeats, Heterozygote, Genome, Human, African Continental Ancestry Group, American Native Continental Ancestry Group, European Continental Ancestry Group, Latin America, Female, Male, Genetic Variation, Chromosomes, Human, X, Genetics, Population, Genome, Developmental Biology
Abstract

The large and diverse population of Latin America is potentially a powerful resource for elucidating the genetic basis of complex traits through admixture mapping. However, no genome-wide characterization of admixture across Latin America has yet been attempted. Here, we report an analysis of admixture in thirteen Mestizo populations (i.e. in regions of mainly European and Native settlement) from seven countries in Latin America based on data for 678 autosomal and 29 X-chromosome microsatellites. We found extensive variation in Native American and European ancestry (and generally low levels of African ancestry) among populations and individuals, and evidence that admixture across Latin America has often involved predominantly European men and both Native and African women. An admixture analysis allowing for Native American population subdivision revealed a differentiation of the Native American ancestry amongst Mestizos. This observation is consistent with the genetic structure of pre-Columbian populations and with admixture having involved Natives from the area where the Mestizo examined are located. Our findings agree with available information on the demographic history of Latin America and have a number of implications for the design of association studies in population from the region.

Published
2008

29. Native American ancestry significantly contributes to neuromyelitis optica susceptibility in the admixed Mexican population

Author

Romero-Hidalgo, Sandra, Flores-Rivera, José, Rivas-Alonso, Verónica, Barquera, Rodrigo, Villarreal-Molina, María Teresa, Antuna-Puente, Bárbara, Macias-Kauffer, Luis Rodrigo, Villalobos-Comparán, Marisela, Ortiz-Maldonado, Jair, Yu, Neng, Lebedeva, Tatiana V., Alosco, Sharon M., García-Rodríguez, Juan Daniel, González-Torres, Carolina, Rosas-Madrigal, Sandra, Ordoñez, Graciela, Guerrero-Camacho, Jorge Luis, Treviño-Frenk, Irene, Escamilla-Tilch, Monica, García-Lechuga, Maricela, Tovar-Méndez, Víctor Hugo, Pacheco-Ubaldo, Hanna, Acuña-Alonzo, Victor, Bortolini, Maria-Cátira, Gallo, Carla, Bedoya, Gabriel, Rothhammer, Francisco, González-Jose, Rolando, Ruiz-Linares, Andrés, Canizales-Quinteros, Samuel, Yunis, Edmond, Granados, Julio, and Corona, Teresa

Published
2020
Full Text
View/download PDF

32. A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia

Author

Adhikari, Kaustubh, Mendoza-Revilla, Javier, Sohail, Anood, Fuentes-Guajardo, Macarena, Lampert, Jodie, Chacón-Duque, Juan Camilo, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Acuña-Alonzo, Victor, Jaramillo, Claudia, Arias, William, Lozano, Rodrigo Barquera, Everardo, Paola, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Silva de Cerqueira, Caio C., Hunemeier, Tábita, Ramallo, Virginia, Schuler-Faccini, Lavinia, Salzano, Francisco M., Gonzalez-José, Rolando, Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Tobin, Desmond J., Fumagalli, Matteo, Balding, David, and Ruiz-Linares, Andrés

Published
2019
Full Text
View/download PDF

33. Genome-wide association studies identify DNA variants influencing eyebrow thickness variation in Europeans and across continental populations

Author

Peng, Fuduan, primary, Xiong, Ziyi, additional, Zhu, Gu, additional, Hysi, Pirro G., additional, Eller, Ryan J., additional, Wu, Sijie, additional, Adhikari, Kaustubh, additional, Chen, Yan, additional, Li, Yi, additional, Gonzalez-José, Rolando, additional, Schüler-Faccini, Lavinia, additional, Bortolini, Maria-Cátira, additional, Acuña-Alonzo, Victor, additional, Canizales-Quinteros, Samuel, additional, Gallo, Carla, additional, Poletti, Giovanni, additional, Bedoya, Gabriel, additional, Rothhammer, Francisco, additional, Uitterlinden, André G., additional, Ikram, M. Arfan, additional, Nijsten, Tamar, additional, Ruiz-Linares, Andrés, additional, Wang, Sijia, additional, Walsh, Susan, additional, Spector, Timothy D., additional, Martin, Nicholas G., additional, Kayser, Manfred, additional, and Liu, Fan, additional

Published
2023
Full Text
View/download PDF

34. Genetic contributions to circadian activity rhythm and sleep pattern phenotypes in pedigrees segregating for severe bipolar disorder

Author

Pagani, Lucia, St. Clair, Patricia A., Teshiba, Terri M., Service, Susan K., Fears, Scott C., Araya, Carmen, Araya, Xinia, Bejarano, Julio, Ramirez, Margarita, Castrillón, Gabriel, Gomez-Makhinson, Juliana, Lopez, Maria C., Montoya, Gabriel, Montoya, Claudia P., Aldana, Ileana, Navarro, Linda, Freimer, Daniel G., Safaie, Brian, Keung, Lap-Woon, Greenspan, Kiefer, Chou, Katty, Escobar, Javier I., Ospina-Duque, Jorge, Kremeyer, Barbara, Ruiz-Linares, Andres, Cantor, Rita M., Lopez-Jaramillo, Carlos, Macaya, Gabriel, Molina, Julio, Reus, Victor I., Sabatti, Chiara, Bearden, Carrie E., Takahashi, Joseph S., and Freimer, Nelson B.

Published
2016

35. Global diversity, population stratification, and selection of human copy-number variation

Author

Sudmant, Peter H., Mallick, Swapan, Nelson, Bradley J., Hormozdiari, Fereydoun, Krumm, Niklas, Huddleston, John, Coe, Bradley P., Baker, Carl, Nordenfelt, Susanne, Bamshad, Michael, Jorde, Lynn B., Posukh, Olga L., Sahakyan, Hovhannes, Watkins, W. Scott, Yepiskoposyan, Levon, Abdullah, M. Syafiq, Bravi, Claudio M., Capelli, Cristian, Hervig, Tor, Wee, Joseph T. S., Tyler-Smith, Chris, van Driem, George, Romero, Irene Gallego, Jha, Aashish R., Karachanak-Yankova, Sena, Toncheva, Draga, Comas, David, Henn, Brenna, Kivisild, Toomas, Ruiz-Linares, Andres, Sajantila, Antti, Metspalu, Ene, Parik, Jüri, Villems, Richard, Starikovskaya, Elena B., Ayodo, George, Beall, Cynthia M., Di Rienzo, Anna, Hammer, Michael F., Khusainova, Rita, Khusnutdinova, Elza, Klitz, William, Winkler, Cheryl, Labuda, Damian, Metspalu, Mait, Tishkoff, Sarah A., Dryomov, Stanislav, Sukernik, Rem, Patterson, Nick, Reich, David, and Eichler, Evan E.

Published
2015

36. GWAs Identify DNA Variants Influencing Eyebrow Thickness Variation in Europeans and Across Continental Populations

Author

Peng, Fuduan, Xiong, Ziyi, Zhu, Gu, Hysi, Pirro G., Eller, Ryan J., Wu, Sijie, Adhikari, Kaustubh, Chen, Yan, Li, Yi, Gonzalez-José, Rolando, Schüler-Faccini, Lavinia, Bortolini, Maria-Cátira, Acuña-Alonzo, Victor, Canizales-Quinteros, Samuel, Gallo López-Aliaga, Carla Maria, Poletti Ferrara, Giovanni Angelo, Bedoya, Gabriel, Rothhammer, Francisco, Uitterlinden, André G., Ikram, M. Arfan, Nijsten, Tamar, Ruiz-Linares, Andrés, Wang, Sijia, Walsh, Susan, Spector, Timothy D., Martin, Nicholas G., Kayser, Manfred, and Liu, Fan

Subjects
Variaciones en el Número de Copia de ADN, DNA Variants, Europeans, Across Continental Populations, GWAS, Pueblo Europeo, Eyebrow Thickness Variation, Cejas, Estudio de Asociación del Genoma Completo
Abstract

Human subjects: All cohort participants gave written informed consent and consent to publish. Ethical approvals were provided for the RS according to the Population Study Act Rotterdam Study (Wet Bevolkingsonderzoek ERGO) executed by the Ministry of Health, Welfare and Sports of The Netherlands, for the TwinsUK study by the St. Thomas’ Hospital Local Research Ethics Committee, for the QIMR study by the QIMR Human Research Ethics Committee, and for the US study by the Indiana University Internal...

Published
2023

38. Copy Number Variation in Obsessive-Compulsive Disorder and Tourette Syndrome: A Cross-Disorder Study

Author

McGrath, Lauren M., Yu, Dongmei, Marshall, Christian, Davis, Lea K., Thiruvahindrapuram, Bhooma, Li, Bingbin, Cappi, Carolina, Gerber, Gloria, Wolf, Aaron, Schroeder, Frederick A., Osiecki, Lisa, O'Dushlaine, Colm, Kirby, Andrew, Illmann, Cornelia, Haddad, Stephen, Gallagher, Patience, Fagerness, Jesen A., Barr, Cathy L., Bellodi, Laura, Benarroch, Fortu, Bienvenu, O. Joseph, Black, Donald W., Bloch, Michael H., Bruun, Ruth D., Budman, Cathy L., Camarena, Beatriz, Cath, Danielle C., Cavallini, Maria C., Chouinard, Sylvain, Coric, Vladimir, Cullen, Bernadette, Delorme, Richard, Denys, Damiaan, Derks, Eske M., Dion, Yves, Rosário, Maria C., Eapen, Valsama, Evans, Patrick, Falkai, Peter, Fernandez, Thomas V., Garrido, Helena, Geller, Daniel, Grabe, Hans J., Grados, Marco A., Greenberg, Benjamin D., Gross-Tsur, Varda, Grünblatt, Edna, Heiman, Gary A., Hemmings, Sian M.J., Herrera, Luis D., Hounie, Ana G., Jankovic, Joseph, Kennedy, James L., King, Robert A., Kurlan, Roger, Lanzagorta, Nuria, Leboyer, Marion, Leckman, James F., Lennertz, Leonhard, Lochner, Christine, Lowe, Thomas L., Lyon, Gholson J., Macciardi, Fabio, Maier, Wolfgang, McCracken, James T., McMahon, William, Murphy, Dennis L., Naarden, Allan L., Neale, Benjamin M., Nurmi, Erika, Pakstis, Andrew J., Pato, Michele T., Pato, Carlos N., Piacentini, John, Pittenger, Christopher, Pollak, Yehuda, Reus, Victor I., Richter, Margaret A., Riddle, Mark, Robertson, Mary M., Rosenberg, David, Rouleau, Guy A., Ruhrmann, Stephan, Sampaio, Aline S., Samuels, Jack, Sandor, Paul, Sheppard, Brooke, Singer, Harvey S., Smit, Jan H., Stein, Dan J., Tischfield, Jay A., Vallada, Homero, Veenstra-VanderWeele, Jeremy, Walitza, Susanne, Wang, Ying, Wendland, Jens R., Shugart, Yin Yao, Miguel, Euripedes C., Nicolini, Humberto, Oostra, Ben A., Moessner, Rainald, Wagner, Michael, Ruiz-Linares, Andres, Heutink, Peter, Nestadt, Gerald, Freimer, Nelson, Petryshen, Tracey, Posthuma, Danielle, Jenike, Michael A., Cox, Nancy J., Hanna, Gregory L., Brentani, Helena, Scherer, Stephen W., Arnold, Paul D., Stewart, S. Evelyn, Mathews, Carol A., Knowles, James A., Cook, Edwin H., Pauls, David L., Wang, Kai, and Scharf, Jeremiah M.

Published
2014
Full Text
View/download PDF

39. Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits—The Hispanic/Latino Anthropometry Consortium

Author

Fernández-Rhodes, Lindsay, Graff, Mariaelisa, Buchanan, Victoria L., Justice, Anne E., Highland, Heather M., Guo, Xiuqing, Zhu, Wanying, Chen, Hung-Hsin, Young, Kristin L., Adhikari, Kaustubh, Palmer, Nicholette D., Below, Jennifer E., Bradfield, Jonathan, Pereira, Alexandre C., Glover, LáShauntá, Kim, Daeeun, Lilly, Adam G., Shrestha, Poojan, Thomas, Alvin G., Zhang, Xinruo, Chen, Minhui, Chiang, Charleston W.K., Pulit, Sara, Horimoto, Andrea, Krieger, Jose E., Guindo-Martínez, Marta, Preuss, Michael, Schumann, Claudia, Smit, Roelof A.J., Torres-Mejía, Gabriela, Acuña-Alonzo, Victor, Bedoya, Gabriel, Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Gallo, Carla, González-José, Rolando, Poletti, Giovanni, Rothhammer, Francisco, Hakonarson, Hakon, Igo, Robert, Adler, Sharon G., Iyengar, Sudha K., Nicholas, Susanne B., Gogarten, Stephanie M., Isasi, Carmen R., Papnicolaou, George, Stilp, Adrienne M., Qi, Qibin, Kho, Minjung, Smith, Jennifer A., Langefeld, Carl D., Wagenknecht, Lynne, Mckean-Cowdin, Roberta, Gao, Xiaoyi Raymond, Nousome, Darryl, Conti, David V., Feng, Ye, Allison, Matthew A., Arzumanyan, Zorayr, Buchanan, Thomas A., Chen, Yii-Der Ida, Genter, Pauline M., Goodarzi, Mark O., Hai, Yang, Hsueh, Willa, Ipp, Eli, Kandeel, Fouad R., Lam, Kelvin, Li, Xiaohui, Nadler, Jerry L., Raffel, Leslie J., Roll, Kathryn, Sandow, Kevin, Tan, Jingyi, Taylor, Kent D., Xiang, Anny H., Yao, Jie, Audirac-Chalifour, Astride, Peralta Romero, Jose de Jesus, Hartwig, Fernando, Horta, Bernando, Blangero, John, Curran, Joanne E., Duggirala, Ravindranath, Lehman, Donna E., Puppala, Sobha, Fejerman, Laura, John, Esther M., Aguilar-Salinas, Carlos, Burtt, Noël P., Florez, Jose C., García-Ortíz, Humberto, González-Villalpando, Clicerio, Mercader, Josep, Orozco, Lorena, Tusié-Luna, Teresa, Blanco, Estela, Gahagan, Sheila, Cox, Nancy J., Hanis, Craig, Butte, Nancy F., Cole, Shelley A., Comuzzie, Anthony G., Voruganti, V. Saroja, Rohde, Rebecca, Wang, Yujie, Sofer, Tamar, Ziv, Elad, Grant, Struan F.A., Ruiz-Linares, Andres, Rotter, Jerome I., Haiman, Christopher A., Parra, Esteban J., Cruz, Miguel, Loos, Ruth J.F., and North, Kari E.

Published
2023
Full Text
View/download PDF

40. Latin Americans show wide-spread Converso ancestry and imprint of local Native ancestry on physical appearance

Author

Chacón-Duque, Juan-Camilo, Adhikari, Kaustubh, Fuentes-Guajardo, Macarena, Mendoza-Revilla, Javier, Acuña-Alonzo, Victor, Barquera, Rodrigo, Quinto-Sánchez, Mirsha, Gómez-Valdés, Jorge, Everardo Martínez, Paola, Villamil-Ramírez, Hugo, Hünemeier, Tábita, Ramallo, Virginia, Silva de Cerqueira, Caio C., Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Villena, Mercedes, Vásquez, René, Llop, Elena, Sandoval, José R., Salazar-Granara, Alberto A., Parolin, Maria-Laura, Sandoval, Karla, Peñaloza-Espinosa, Rosenda I., Rangel-Villalobos, Hector, Winkler, Cheryl A., Klitz, William, Bravi, Claudio, Molina, Julio, Corach, Daniel, Barrantes, Ramiro, Gomes, Verónica, Resende, Carlos, Gusmão, Leonor, Amorim, Antonio, Xue, Yali, Dugoujon, Jean-Michel, Moral, Pedro, González-José, Rolando, Schuler-Faccini, Lavinia, Salzano, Francisco M., Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Poletti, Giovanni, Gallo, Carla, Bedoya, Gabriel, Rothhammer, Francisco, Balding, David, Hellenthal, Garrett, and Ruiz-Linares, Andrés

Published
2018
Full Text
View/download PDF

43. Disentangling Signatures of Selection Before and After European Colonization in Latin Americans

Author

Mendoza-Revilla, Javier, Chacón-Duque, J. Camilo, Fuentes-Guajardo, Macarena, Ormond, Louise, Wang, Ke, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Acuña-Alonzo, Victor, Jaramillo, Claudia, Arias, William, Barquera, Rodrigo, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, de Cerqueira, Caio C. Silva, Rivera, Keyla M. Badillo, Nieves-Colón, Maria A., Gignoux, Christopher R., Wojcik, Genevieve L., Moreno-Estrada, Andrés, Hünemeier, Tábita, Ramallo, Virginia, Schuler-Faccini, Lavinia, Gonzalez-José, Rolando, Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Balding, David, Fumagalli, Matteo, Adhikari, Kaustubh, Ruiz-Linares, Andrés, Hellenthal, Garrett, Mendoza-Revilla, Javier, Chacón-Duque, J. Camilo, Fuentes-Guajardo, Macarena, Ormond, Louise, Wang, Ke, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Acuña-Alonzo, Victor, Jaramillo, Claudia, Arias, William, Barquera, Rodrigo, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, de Cerqueira, Caio C. Silva, Rivera, Keyla M. Badillo, Nieves-Colón, Maria A., Gignoux, Christopher R., Wojcik, Genevieve L., Moreno-Estrada, Andrés, Hünemeier, Tábita, Ramallo, Virginia, Schuler-Faccini, Lavinia, Gonzalez-José, Rolando, Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Balding, David, Fumagalli, Matteo, Adhikari, Kaustubh, Ruiz-Linares, Andrés, and Hellenthal, Garrett

Abstract

Throughout human evolutionary history, large-scale migrations have led to intermixing (i.e., admixture) between previously separated human groups. Although classical and recent work have shown that studying admixture can yield novel historical insights, the extent to which this process contributed to adaptation remains underexplored. Here, we introduce a novel statistical model, specific to admixed populations, that identifies loci under selection while determining whether the selection likely occurred post-admixture or prior to admixture in one of the ancestral source populations. Through extensive simulations, we show that this method is able to detect selection, even in recently formed admixed populations, and to accurately differentiate between selection occurring in the ancestral or admixed population. We apply this method to genome-wide SNP data of ∼4,000 individuals in five admixed Latin American cohorts from Brazil, Chile, Colombia, Mexico, and Peru. Our approach replicates previous reports of selection in the human leukocyte antigen region that are consistent with selection post-admixture. We also report novel signals of selection in genomic regions spanning 47 genes, reinforcing many of these signals with an alternative, commonly used local-ancestry-inference approach. These signals include several genes involved in immunity, which may reflect responses to endemic pathogens of the Americas and to the challenge of infectious disease brought by European contact. In addition, some of the strongest signals inferred to be under selection in the Native American ancestral groups of modern Latin Americans overlap with genes implicated in energy metabolism phenotypes, plausibly reflecting adaptations to novel dietary sources available in the Americas.

Published
2022
Full Text
View/download PDF

45. Disentangling Signatures of Selection Before and After European Colonization in Latin Americans

Author

Mendoza-Revilla, Javier, primary, Chacón-Duque, J. Camilo, additional, Fuentes-Guajardo, Macarena, additional, Ormond, Louise, additional, Wang, Ke, additional, Hurtado, Malena, additional, Villegas, Valeria, additional, Granja, Vanessa, additional, Acuña-Alonzo, Victor, additional, Jaramillo, Claudia, additional, Arias, William, additional, Barquera, Rodrigo, additional, Gómez-Valdés, Jorge, additional, Villamil-Ramírez, Hugo, additional, Silva de Cerqueira, Caio C., additional, Badillo Rivera, Keyla M., additional, Nieves-Colón, Maria A., additional, Gignoux, Christopher R., additional, Wojcik, Genevieve L., additional, Moreno-Estrada, Andrés, additional, Hünemeier, Tábita, additional, Ramallo, Virginia, additional, Schuler-Faccini, Lavinia, additional, Gonzalez-José, Rolando, additional, Bortolini, Maria-Cátira, additional, Canizales-Quinteros, Samuel, additional, Gallo, Carla, additional, Poletti, Giovanni, additional, Bedoya, Gabriel, additional, Rothhammer, Francisco, additional, Balding, David, additional, Fumagalli, Matteo, additional, Adhikari, Kaustubh, additional, Ruiz-Linares, Andrés, additional, and Hellenthal, Garrett, additional

Published
2022
Full Text
View/download PDF

46. Fully automatic landmarking of 2D photographs identifies novel genetic loci influencing facial features

Author

Li, Qing, primary, Chen, Jieyi, additional, Faux, Pierre, additional, Bonfante, Betty, additional, Fuentes-Guajardo, Macarena, additional, Mendoza-Revilla, Javier, additional, Chacón-Duque, Juan, additional, Hurtado, Malena, additional, Villegas, Valeria, additional, Granja, Vanessa, additional, Jaramillo, Claudia, additional, Arias, William, additional, Barquera, Rodrigo, additional, Everardo-Martínez, Paola, additional, Sánchez-Quinto, Mirsha, additional, Gómez-Valdés, Jorge, additional, Villamil-Ramírez, Hugo, additional, de Cerqueira, Caio C. Silva, additional, Hünemeier, Tábita, additional, Ramallo, Virginia, additional, Wu, Sijie, additional, Du, Siyuan, additional, Gonzalez-José, Rolando, additional, Schüler-Faccini, Lavinia, additional, Bortolini, Maria-Cátira, additional, Acuña-Alonzo, Victor, additional, Canizales-Quinteros, Samuel, additional, Gallo, Carla, additional, Poletti, Giovanni, additional, Rojas, Winston, additional, Rothhammer, Francisco, additional, Navarro, Nicolas, additional, Wang, Sijia, additional, Adhikari, Kaustubh, additional, and Ruiz-Linares, Andrés, additional

Published
2022
Full Text
View/download PDF

49. Disentangling signatures of selection before and after European colonization in Latin Americans

Author

Mendoza-Revilla, Javier, primary, Chacón-Duque, Juan Camilo, additional, Fuentes-Guajardo, Macarena, additional, Ormond, Louise, additional, Wang, Ke, additional, Hurtado, Malena, additional, Villegas, Valeria, additional, Granja, Vanessa, additional, Acuña-Alonzo, Victor, additional, Jaramillo, Claudia, additional, Arias, William, additional, Lozano, Rodrigo Barquera, additional, Gómez-Valdés, Jorge, additional, Villamil-Ramírez, Hugo, additional, Silva de Cerqueira, Caio C., additional, Badillo Rivera, Keyla M., additional, Nieves-Colón, Maria A., additional, Gignoux, Christopher R., additional, Wojcik, Genevieve L., additional, Moreno-Estrada, Andrés, additional, Hunemeier, Tábita, additional, Ramallo, Virginia, additional, Schuler-Faccini, Lavinia, additional, Gonzalez-José, Rolando, additional, Bortolini, Maria-Cátira, additional, Canizales-Quinteros, Samuel, additional, Gallo, Carla, additional, Poletti, Giovanni, additional, Bedoya, Gabriel, additional, Rothhammer, Francisco, additional, Balding, David, additional, Fumagalli, Matteo, additional, Adhikari, Kaustubh, additional, Ruiz-Linares, Andrés, additional, and Hellenthal, Garrett, additional

Published
2021
Full Text
View/download PDF

50. HUMAN GENETICS: The genetics of Mexico recapitulates Native American substructure and affects biomedical traits

Author

Moreno-Estrada, Andrés, Gignoux, Christopher R., Fernández-López, Juan Carlos, Zakharia, Fouad, Sikora, Martin, Contreras, Alejandra V., Acuña-Alonzo, Victor, Sandoval, Karla, Eng, Celeste, Romero-Hidalgo, Sandra, Ortiz-Tello, Patricia, Robles, Victoria, Kenny, Eimear E., Nuño-Arana, Ismael, Barquera-Lozano, Rodrigo, Macín-Pérez, Gastón, Granados-Arriola, Julio, Huntsman, Scott, Galanter, Joshua M., Via, Marc, Ford, Jean G., Chapela, Rocío, Rodriguez-Cintron, William, Rodríguez-Santana, Jose R., Romieu, Isabelle, Sienra-Monge, Juan José, del Rio Navarro, Blanca, London, Stephanie J., Ruiz-Linares, Andrés, Garcia-Herrera, Rodrigo, Estrada, Karol, Hidalgo-Miranda, Alfredo, Jimenez-Sanchez, Gerardo, Carnevale, Alessandra, Soberón, Xavier, Canizales-Quinteros, Samuel, Rangel-Villalobos, Hector, Silva-Zolezzi, Irma, Burchard, Esteban Gonzalez, and Bustamante, Carlos D.

Published
2014
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results