A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome

Rasika Ann Mathias, Margaret A. Taub, Christopher R. Gignoux, Wenqing Fu, Shaila Musharoff, Timothy D. O'Connor, Candelaria Vergara, Dara G. Torgerson, Maria Pino-Yanes, Suyash S. Shringarpure, Lili Huang, Nicholas Rafaels, Meher Preethi Boorgula, Henry Richard Johnston, Victor E. Ortega, Albert M. Levin, Wei Song, Raul Torres, Badri Padhukasahasram, Celeste EngDelmy Aracely Mejia-Mejia, Trevor Ferguson, Zhaohui S. Qin, Alan F. Scott, Maria Yazdanbakhsh, James G. Wilson, Javier Marrugo, Leslie A. Lange, Rajesh Kumar, Pedro C. Avila, L. Keoki Williams, Harold Watson, Lorraine B. Ware, Christopher Olopade, Olufunmilayo Olopade, Ricardo Oliveira, Carole Ober, Dan L. Nicolae, Deborah Meyers, Alvaro Mayorga, Jennifer Knight-Madden, Tina Hartert, Nadia N. Hansel, Marilyn G. Foreman, Jean G. Ford, Mezbah U. Faruque, Georgia M. Dunston, Luis Caraballo, Esteban G. Burchard, Eugene Bleecker, Maria Ilma Araujo, Edwin Francisco Herrera-Paz, Kimberly Gietzen, Wendy E. Grus, Michael Bamshad, Carlos D. Bustamante, Eimear E. Kenny, Ryan D. Hernandez, Terri H. Beaty, Ingo Ruczinski, Joshua Akey, Kathleen C. Barnes

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102 Scopus citations


The African Diaspora in the Western Hemisphere represents one of the largest forced migrations in history and had a profound impact on genetic diversity in modern populations. To date, the fine-scale population structure of descendants of the African Diaspora remains largely uncharacterized. Here we present genetic variation from deeply sequenced genomes of 642 individuals from North and South American, Caribbean and West African populations, substantially increasing the lexicon of human genomic variation and suggesting much variation remains to be discovered in African-admixed populations in the Americas. We summarize genetic variation in these populations, quantifying the postcolonial sex-biased European gene flow across multiple regions. Moreover, we refine estimates on the burden of deleterious variants carried across populations and how this varies with African ancestry. Our data are an important resource for empowering disease mapping studies in African-admixed individuals and will facilitate gene discovery for diseases disproportionately affecting individuals of African ancestry.

Original languageEnglish
Article number12522
JournalNature Communications
StatePublished - 11 Oct 2016


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