Integrating common and rare genetic variation in diverse human populations View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2010-09

AUTHORS

David M Altshuler, Richard A Gibbs, Leena Peltonen, David M Altshuler, Richard A Gibbs, Leena Peltonen, Emmanouil Dermitzakis, Stephen F Schaffner, Fuli Yu, Leena Peltonen, Emmanouil Dermitzakis, Penelope E Bonnen, David M Altshuler, Richard A Gibbs, Paul I W de Bakker, Panos Deloukas, Stacey B Gabriel, Rhian Gwilliam, Sarah Hunt, Michael Inouye, Xiaoming Jia, Aarno Palotie, Melissa Parkin, Pamela Whittaker, Fuli Yu, Kyle Chang, Alicia Hawes, Lora R Lewis, Yanru Ren, David Wheeler, Richard A Gibbs, Donna Marie Muzny, Chris Barnes, Katayoon Darvishi, Matthew Hurles, Joshua M Korn, Kati Kristiansson, Charles Lee, Steven A McCarrol, James Nemesh, Emmanouil Dermitzakis, Alon Keinan, Stephen B Montgomery, Samuela Pollack, Alkes L Price, Nicole Soranzo, Penelope E Bonnen, Richard A Gibbs, Claudia Gonzaga-Jauregui, Alon Keinan, Alkes L Price, Fuli Yu, Verneri Anttila, Wendy Brodeur, Mark J Daly, Stephen Leslie, Gil McVean, Loukas Moutsianas, Huy Nguyen, Stephen F Schaffner, Qingrun Zhang, Mohammed J R Ghori, Ralph McGinnis, William McLaren, Samuela Pollack, Alkes L Price, Stephen F Schaffner, Fumihiko Takeuchi, Sharon R Grossman, Ilya Shlyakhter, Elizabeth B Hostetter, Pardis C Sabeti, Clement A Adebamowo, Morris W Foster, Deborah R Gordon, Julio Licinio, Maria Cristina Manca, Patricia A Marshall, Ichiro Matsuda, Duncan Ngare, Vivian Ota Wang, Deepa Reddy, Charles N Rotimi, Charmaine D Royal, Richard R Sharp, Changqing Zeng, Lisa D Brooks, Jean E McEwen

ABSTRACT

Despite great progress in identifying genetic variants that influence human disease, most inherited risk remains unexplained. A more complete understanding requires genome-wide studies that fully examine less common alleles in populations with a wide range of ancestry. To inform the design and interpretation of such studies, we genotyped 1.6 million common single nucleotide polymorphisms (SNPs) in 1,184 reference individuals from 11 global populations, and sequenced ten 100-kilobase regions in 692 of these individuals. This integrated data set of common and rare alleles, called 'HapMap 3', includes both SNPs and copy number polymorphisms (CNPs). We characterized population-specific differences among low-frequency variants, measured the improvement in imputation accuracy afforded by the larger reference panel, especially in imputing SNPs with a minor allele frequency of More... »

PAGES

52

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/nature09298

DOI

http://dx.doi.org/10.1038/nature09298

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1052674054

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/20811451


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