Now showing items 1-20 of 43

    • Admixture mapping of 15,280 African Americans identifies obesity susceptibility loci on chromosomes 5 and X 

      Cheng, Ching-Yu; Patterson, Nick; Haiman, Christopher A.; Harris, Tamara B.; Xing, Chao; John, Esther M.; Ambrosone, Christine B.; Brancati, Frederick L.; Coresh, Josef; Press, Michael F.; Parekh, Rulan S.; Klag, Michael J.; Meoni, Lucy A.; Hsueh, Wen-Chi; Fejerman, Laura; Pawlikowska, Ludmila; Jandorf, Lina H.; Bandera, Elisa V.; Ciupak, Gregory L.; Nalls, Michael A.; Akylbekova, Ermeg L.; Orwoll, Eric S.; Leak, Tennille S.; Miljkovic, Iva; Li, Rongling; Ursin, Giske; Bernstein, Leslie; Ardlie, Kristin; Taylor, Herman A.; Boerwinckle, Eric; Zmuda, Joseph M.; Henderson, Brian E.; Wilson, James G.; Kao, W. H. Linda; Tandon, Arti; Freedman, Matthew Lawrence; Patterson, Nicholas; Reich, David Emil (Public Library of Science, 2009)
    • Admixture Mapping Scans Identify a Locus Affecting Retinal Vascular Caliber in Hypertensive African Americans: The Atherosclerosis Risk in Communities (ARIC) Study 

      Cheng, Ching-Yu; Wong, Tien Y.; Klein, Ronald; Klein, Barbara E. K.; Patterson, Nick; Li, Man; Boerwinkle, Eric; Sharrett, A. Richey; Reich, David Emil; Tandon, Arti; Kao, W. H. Linda (Public Library of Science, 2010)
      Retinal vascular caliber provides information about the structure and health of the microvascular system and is associated with cardiovascular and cerebrovascular diseases. Compared to European Americans, African Americans ...
    • African Ancestry and Its Correlation to Type 2 Diabetes in African Americans: A Genetic Admixture Analysis in Three U.S. Population Cohorts 

      Cheng, Ching-Yu; Haiman, Christopher A.; Patterson, Nick; Elizabeth, Selvin; Akylbekova, Ermeg L.; Brancati, Frederick L.; Coresh, Josef; Boerwinkle, Eric; Taylor, Herman A.; Henderson, Brian E.; Wilson, James G.; Reich, David Emil; Tandon, Arti; Altshuler, David Matthew; Kao, W. H. Linda (Public Library of Science, 2012)
      The risk of type 2 diabetes is approximately 2-fold higher in African Americans than in European Americans even after adjusting for known environmental risk factors, including socioeconomic status (SES), suggesting that ...
    • Amerind Ancestry, Socioeconomic Status and the Genetics of Type 2 Diabetes in a Colombian Population 

      Campbell, Desmond D.; Parra, Maria V.; Duque, Constanza; Gallego, Natalia; Franco, Liliana; Hünemeier, Tábita; Bortolini, Cátira; Villegas, Alberto; Bedoya, Gabriel; McCarthy, Mark I.; Ruiz-Linares, Andrés; Tandon, Arti; Price, Alkes; Reich, David Emil (Public Library of Science, 2012)
      The “thrifty genotype” hypothesis proposes that the high prevalence of type 2 diabetes (T2D) in Native Americans and admixed Latin Americans has a genetic basis and reflects an evolutionary adaptation to a past low ...
    • Analysis of Chimpanzee History Based on Genome Sequence Alignments 

      Caswell, Jennifer L.; Mallick, Swapan; Richter, Daniel J.; Neubauer, Julie; Schirmer, Christine; Gnerre, Sante; Reich, David Emil (Public Library of Science, 2008)
      Population geneticists often study small numbers of carefully chosen loci, but it has become possible to obtain orders of magnitude for more data from overlaps of genome sequences. Here, we generate tens of millions of ...
    • Ancient human genomes suggest three ancestral populations for present-day Europeans 

      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 B. J.; 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 M.; 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; Krause, Johannes (2014)
      We sequenced the genomes of a ~7,000 year old farmer from Germany and eight ~8,000 year old hunter-gatherers from Luxembourg and Sweden. We analyzed these and other ancient genomes1–4 with 2,345 contemporary humans to show ...
    • Ancient mitochondrial DNA provides high-resolution time scale of the peopling of the Americas 

      Llamas, Bastien; Fehren-Schmitz, Lars; Valverde, Guido; Soubrier, Julien; Mallick, Swapan; Rohland, Nadin; Nordenfelt, Susanne; Valdiosera, Cristina; Richards, Stephen M.; Rohrlach, Adam; Romero, Maria Inés Barreto; Espinoza, Isabel Flores; Cagigao, Elsa Tomasto; Jiménez, Lucía Watson; Makowski, Krzysztof; Reyna, Ilán Santiago Leboreiro; Lory, Josefina Mansilla; Torrez, Julio Alejandro Ballivián; Rivera, Mario A.; Burger, Richard L.; Ceruti, Maria Constanza; Reinhard, Johan; Wells, R. Spencer; Politis, Gustavo; Santoro, Calogero M.; Standen, Vivien G.; Smith, Colin; Reich, David; Ho, Simon Y. W.; Cooper, Alan; Haak, Wolfgang (American Association for the Advancement of Science, 2016)
      The exact timing, route, and process of the initial peopling of the Americas remains uncertain despite much research. Archaeological evidence indicates the presence of humans as far as southern Chile by 14.6 thousand years ...
    • Calibrating the Human Mutation Rate via Ancestral Recombination Density in Diploid Genomes 

      Lipson, Mark; Loh, Po-Ru; Sankararaman, Sriram; Patterson, Nick; Berger, Bonnie; Reich, David (Public Library of Science, 2015)
      The human mutation rate is an essential parameter for studying the evolution of our species, interpreting present-day genetic variation, and understanding the incidence of genetic disease. Nevertheless, our current estimates ...
    • The Case for Selection at CCR5-Δ32 

      Walsh, Emily; Schaffner, Steve F; Varilly, Patrick; Fry, Ben; Hutcheson, Holli B; Cullen, Mike; Mikkelsen, Tarjei S; Roy, Jessica; Patterson, Nick; Sabeti, Pardis Christine; Cooper, Richard; Reich, David Emil; Altshuler, David Matthew; O'Brien, Stephen James; Lander, Eric Steven (Public Library of Science, 2005)
      The C-C chemokine receptor 5, 32 base-pair deletion (CCR5-Δ32) allele confers strong resistance to infection by the AIDS virus HIV. Previous studies have suggested that CCR5-Δ32 arose within the past 1,000 y and rose to ...
    • The complete genome sequence of a Neandertal from the Altai Mountains 

      Prüfer, Kay; Racimo, Fernando; Patterson, Nick; Jay, Flora; Sankararaman, Sriram; Sawyer, Susanna; Heinze, Anja; Renaud, Gabriel; Sudmant, Peter H.; de Filippo, Cesare; Li, Heng; Mallick, Swapan; Dannemann, Michael; Fu, Qiaomei; Kircher, Martin; Kuhlwilm, Martin; Lachmann, Michael; Meyer, Matthias; Ongyerth, Matthias; Siebauer, Michael; Theunert, Christoph; Tandon, Arti; Moorjani, Priya; Pickrell, Joseph; Mullikin, James C.; Vohr, Samuel H.; Green, Richard E.; Hellmann, Ines; Johnson, Philip L. F.; Blanche, Hélène; Cann, Howard; Kitzman, Jacob O.; Shendure, Jay; Eichler, Evan E.; Lein, Ed S.; Bakken, Trygve E.; Golovanova, Liubov V.; Doronichev, Vladimir B.; Shunkov, Michael V.; Derevianko, Anatoli P.; Viola, Bence; Slatkin, Montgomery; Reich, David; Kelso, Janet; Pääbo, Svante (2014)
      We present a high-quality genome sequence of a Neandertal woman from Siberia. We show that her parents were related at the level of half siblings and that mating among close relatives was common among her recent ancestors. ...
    • Concept, Design and Implementation of a Cardiovascular Gene-centric 50 K SNP Array for Large-scale Genomic Association Studies 

      Keating, Brendan J.; Tischfield, Sam; Murray, Sarah S.; Bhangale, Tushar; Price, Thomas S.; Glessner, Joseph T.; Galver, Luana; Barrett, Jeffrey C.; Grant, Struan F. A.; Farlow, Deborah N.; Chandrupatla, Hareesh R.; Ajmal, Saad; Papanicolaou, George J.; Guo, Yiran; Li, Mingyao; DerOhannessian, Stephanie; Bailey, Swneke D.; Montpetit, Alexandre; Edmondson, Andrew C.; Taylor, Kent; Gai, Xiaowu; Wang, Susanna S.; Fornage, Myriam; Shaikh, Tamim; Groop, Leif; Boehnke, Michael; Hall, Alistair S.; Hattersley, Andrew T.; Frackelton, Edward; Patterson, Nick; Chiang, Charleston W. K.; Kim, Cecelia E.; Fabsitz, Richard R.; Ouwehand, Willem; Munroe, Patricia; Caulfield, Mark; Drake, Thomas; Boerwinkle, Eric; Whitehead, A. Stephen; Cappola, Thomas P.; Samani, Nilesh J.; Lusis, A. Jake; Schadt, Eric; Wilson, James G.; Koenig, Wolfgang; McCarthy, Mark I.; Kathiresan, Sekar; Gabriel, Stacey B.; Hakonarson, Hakon; Anand, Sonia S.; Reilly, Muredach; Engert, James C.; Nickerson, Deborah A.; Rader, Daniel J.; FitzGerald, Garret A.; Reitsma, Pieter H.; Hansen, Mark; de Bakker, Paul I Wen; Price, Alkes; Reich, David Emil; Hirschhorn, Joel Naom (Public Library of Science, 2008)
      A wealth of genetic associations for cardiovascular and metabolic phenotypes in humans has been accumulating over the last decade, in particular a large number of loci derived from recent genome wide association studies ...
    • The Date of Interbreeding between Neandertals and Modern Humans 

      Sankararaman, Sriram; Patterson, Nick; Li, Heng; Pääbo, Svante; Reich, David Emil (Public Library of Science, 2012)
      Comparisons of DNA sequences between Neandertals and present-day humans have shown that Neandertals share more genetic variants with non-Africans than with Africans. This could be due to interbreeding between Neandertals ...
    • A direct characterization of human mutation based on microsatellites 

      Sun, James Xin; Helgason, Agnar; Masson, Gisli; Ebenesersdóttir, Sigríđur Sunna; Li, Heng; Mallick, Swapan; Gnerre, Sante; Patterson, Nick; Kong, Augustine; Reich, David Emil; Stefansson, Kari (2012)
      Mutations are the raw material of evolution, but have been difficult to study directly. We report the largest study of new mutations to date: 2,058 germline changes discovered by analyzing 85,289 Icelanders at 2,477 ...
    • Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck 

      Balick, Daniel J.; Do, Ron; Cassa, Christopher A.; Reich, David; Sunyaev, Shamil R. (Public Library of Science, 2015)
      Population bottlenecks followed by re-expansions have been common throughout history of many populations. The response of alleles under selection to such demographic perturbations has been a subject of great interest in ...
    • An early modern human from Romania with a recent Neanderthal ancestor 

      Fu, Qiaomei; Hajdinjak, Mateja; Moldovan, Oana Teodora; Constantin, Silviu; Mallick, Swapan; Skoglund, Pontus; Patterson, Nick; Rohland, Nadin; Lazaridis, Iosif; Nickel, Birgit; Viola, Bence; Prüfer, Kay; Meyer, Matthias; Kelso, Janet; Reich, David; Pääbo, Svante (2015)
      Neanderthals are thought to have disappeared in Europe ~39,000–41,000 years ago but they have contributed one to three percent of the DNA of present-day people in Eurasia1. Here, we analyze DNA from a 37,000–42,000-year-old2 ...
    • Effects of cis and trans Genetic Ancestry on Gene Expression in African Americans 

      Price, Alkes; Patterson, Nick; Hancks, Dustin C.; Myers, Simon; Reich, David Emil; Cheung, Vivian G.; Spielman, Richard S. (Public Library of Science, 2008)
      Variation in gene expression is a fundamental aspect of human phenotypic variation. Several recent studies have analyzed gene expression levels in populations of different continental ancestry and reported population ...
    • Efficient Moment-Based Inference of Admixture Parameters and Sources of Gene Flow 

      Lipson, Mark; Loh, Po-Ru; Levin, Alex; Reich, David; Patterson, Nick; Berger, Bonnie (Oxford University Press, 2013)
      The recent explosion in available genetic data has led to significant advances in understanding the demographic histories of and relationships among human populations. It is still a challenge, however, to infer reliable ...
    • Evidence of Widespread Selection on Standing Variation in Europe at Height-Associated SNPs 

      Turchin, Michael C.; Chiang, Charleston W. K.; Palmer, Cameron Douglas; Sankararaman, Sriram; Reich, David Emil; Hirschhorn, Joel Naom; GIANT Consortium (Nature Publishing Group, 2012)
      Strong signatures of positive selection at newly arising genetic variants are well-documented in humans, but this form of selection may not be widespread in recent human evolution. Because many human traits are highly ...
    • Functional Enhancers at the Gene-Poor 8q24 Cancer-Linked Locus 

      Landan, Gilad; Jaschek, Rami; Herman, Paula; Yan, Chunli; Khalid, Omar; Oh, William; Manak, J. Robert; Henderson, Brian E.; Frenkel, Baruch; Haiman, Christopher A.; Tanay, Amos; Coetzee, Gerhard A.; Jia, Li; Pomerantz, Mark M; Reich, David Emil; Kantoff, Philip Wayne; Berman, Benjamin P; Freedman, Matthew Lawrence (Public Library of Science, 2009)
      Multiple discrete regions at 8q24 were recently shown to contain alleles that predispose to many cancers including prostate, breast, and colon. These regions are far from any annotated gene and their biological activities ...
    • Genetic Differences between the Determinants of Lipid Profile Phenotypes in African and European Americans: The Jackson Heart Study 

      Deo, Rahul Chandrakant; Reich, David Emil; Tandon, Arti; Akylbekova, Ermeg; Patterson, Nick; Waliszewska, Alicja; Kathiresan, Sekar; Sarpong, Daniel; Taylor, Herman A., Jr.; Wilson, James G. (Public Library of Science, 2009)
      Genome-wide association analysis in populations of European descent has recently found more than a hundred genetic variants affecting risk for common disease. An open question, however, is how relevant the variants discovered ...