title: A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome.
abstract: 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.
authors.affiliation: Department of Medicine, Johns Hopkins University, Baltimore, Maryland 21224, USA.|Department of Epidemiology, Bloomberg School of Public Health, JHU, Baltimore, Maryland 21205, USA.
authors.forename: Rasika Ann
authors.initials: RA
authors.lastname: Mathias
authors.affiliation: Department of Biostatistics, Bloomberg School of Public Health, JHU, Baltimore, Maryland 21205, USA.
authors.forename: Margaret A
authors.initials: MA
authors.lastname: Taub
authors.affiliation: Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA.
authors.forename: Christopher R
authors.initials: CR
authors.lastname: Gignoux
authors.affiliation: Department of Genomic Sciences, University of Washington, Seattle, Washington 98195, USA.
authors.forename: Wenqing
authors.initials: W
authors.lastname: Fu
authors.affiliation: Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA.
authors.forename: Shaila
authors.initials: S
authors.lastname: Musharoff
authors.affiliation: Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA.|Program in Personalized and Genomic Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA.|Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA.
authors.forename: Timothy D
authors.initials: TD
authors.lastname: O'Connor
authors.affiliation: Department of Medicine, Johns Hopkins University, Baltimore, Maryland 21224, USA.
authors.forename: Candelaria
authors.initials: C
authors.lastname: Vergara
authors.affiliation: Department of Medicine, University of California, San Francisco, San Francisco, California 94143, USA.
authors.forename: Dara G
authors.initials: DG
authors.lastname: Torgerson
authors.affiliation: Department of Medicine, University of California, San Francisco, San Francisco, California 94143, USA.|CIBER de Enfermedades Respiratorias, Instituto de Salud Carlos III, Madrid 28029, Spain.
authors.forename: Maria
authors.initials: M
authors.lastname: Pino-Yanes
authors.affiliation: Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA.
authors.forename: Suyash S
authors.initials: SS
authors.lastname: Shringarpure
authors.affiliation: Department of Medicine, Johns Hopkins University, Baltimore, Maryland 21224, USA.
authors.forename: Lili
authors.initials: L
authors.lastname: Huang
authors.affiliation: Department of Medicine, Johns Hopkins University, Baltimore, Maryland 21224, USA.
authors.forename: Nicholas
authors.initials: N
authors.lastname: Rafaels
authors.affiliation: Department of Medicine, Johns Hopkins University, Baltimore, Maryland 21224, USA.
authors.forename: Meher Preethi
authors.initials: MP
authors.lastname: Boorgula
authors.affiliation: Department of Biostatistics and Bioinformatics, Emory University, Atlanta, Georgia 30322, USA.
authors.forename: Henry Richard
authors.initials: HR
authors.lastname: Johnston
authors.affiliation: Center for Human Genomics and Personalized Medicine, Wake Forest School of Medicine, Winston-Salem, North Carolina 27157, USA.
authors.forename: Victor E
authors.initials: VE
authors.lastname: Ortega
authors.affiliation: Department of Public Health Sciences, Henry Ford Health System, Detroit, Michigan 48202, USA.
authors.forename: Albert M
authors.initials: AM
authors.lastname: Levin
authors.affiliation: Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA.|Program in Personalized and Genomic Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA.|Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA.
authors.forename: Wei
authors.initials: W
authors.lastname: Song
authors.affiliation: Biomedical Sciences Graduate Program, University of California, San Francisco, San Francisco, California 94158, USA.
authors.forename: Raul
authors.initials: R
authors.lastname: Torres
authors.affiliation: Center for Health Policy and Health Services Research, Henry Ford Health System, Detroit, Michigan 48202, USA.
authors.forename: Badri
authors.initials: B
authors.lastname: Padhukasahasram
authors.affiliation: Department of Medicine, University of California, San Francisco, San Francisco, California 94143, USA.
authors.forename: Celeste
authors.initials: C
authors.lastname: Eng
authors.affiliation: Centro de Neumologia y Alergias, San Pedro Sula 21102, Honduras.|Faculty of Medicine, Centro Medico de la Familia, San Pedro Sula 21102, Honduras.
authors.forename: Delmy-Aracely
authors.initials: DA
authors.lastname: Mejia-Mejia
authors.affiliation: Tropical Medicine Research Institute, The University of the West Indies, St. Michael BB11115, Barbados.
authors.forename: Trevor
authors.initials: T
authors.lastname: Ferguson
authors.affiliation: Department of Biostatistics and Bioinformatics, Emory University, Atlanta, Georgia 30322, USA.
authors.forename: Zhaohui S
authors.initials: ZS
authors.lastname: Qin
authors.affiliation: Department of Medicine, Johns Hopkins University, Baltimore, Maryland 21224, USA.
authors.forename: Alan F
authors.initials: AF
authors.lastname: Scott
authors.affiliation: Department of Parasitology, Leiden University Medical Center, Leiden 2333ZA, The Netherlands.
authors.forename: Maria
authors.initials: M
authors.lastname: Yazdanbakhsh
authors.affiliation: Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, Mississippi 39216, USA.
authors.forename: James G
authors.initials: JG
authors.lastname: Wilson
authors.affiliation: Instituto de Investigaciones Immunologicas, Universidad de Cartagena, Cartagena 130000, Colombia.
authors.forename: Javier
authors.initials: J
authors.lastname: Marrugo
authors.affiliation: Department of Genetics, University of North Carolina, Chapel Hill, North Carolina 27599, USA.
authors.forename: Leslie A
authors.initials: LA
authors.lastname: Lange
authors.affiliation: Department of Pediatrics, Northwestern University, Chicago, Illinois 60637, USA.|The Ann &Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60637, USA.
authors.forename: Rajesh
authors.initials: R
authors.lastname: Kumar
authors.affiliation: Department of Medicine, Northwestern University, Chicago, Illinois 60637, USA.
authors.forename: Pedro C
authors.initials: PC
authors.lastname: Avila
authors.affiliation: Center for Health Policy and Health Services Research, Henry Ford Health System, Detroit, Michigan 48202, USA.|Department of Internal Medicine, Henry Ford Health System, Detroit, Michigan 48202, USA.
authors.forename: L Keoki
authors.initials: LK
authors.lastname: Williams
authors.affiliation: Faculty of Medical Sciences Cave Hill Campus, The University of the West Indies, Bridgetown BB11000, Barbados.|Queen Elizabeth Hospital, The University of the West Indies, St. Michael BB11115, Barbados.
authors.forename: Harold
authors.initials: H
authors.lastname: Watson
authors.affiliation: Department of Medicine, Vanderbilt University, Nashville, Tennessee 37232, USA.|Department of Pathology, Microbiology and Immunology, Vanderbilt University, Nashville, Tennessee 37232, USA.
authors.forename: Lorraine B
authors.initials: LB
authors.lastname: Ware
authors.affiliation: Department of Medicine and Center for Global Health, University of Chicago, Chicago, Illinois 60637, USA.
authors.forename: Christopher
authors.initials: C
authors.lastname: Olopade
authors.affiliation: Department of Medicine, University of Chicago, Chicago, Illinois 60637, USA.
authors.forename: Olufunmilayo
authors.initials: O
authors.lastname: Olopade
authors.affiliation: Laboratório de Patologia Experimental, Centro de Pesquisas Gonçalo Moniz, Salvador 40296-710, Brazil.
authors.forename: Ricardo
authors.initials: R
authors.lastname: Oliveira
authors.affiliation: Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA.
authors.forename: Carole
authors.initials: C
authors.lastname: Ober
authors.affiliation: Department of Medicine, University of Chicago, Chicago, Illinois 60637, USA.|Department of Statistics, University of Chicago, Chicago, Illinois 60637, USA.
authors.forename: Dan L
authors.initials: DL
authors.lastname: Nicolae
authors.affiliation: Center for Human Genomics and Personalized Medicine, Wake Forest School of Medicine, Winston-Salem, North Carolina 27157, USA.
authors.forename: Deborah
authors.initials: D
authors.lastname: Meyers
authors.affiliation: Centro de Neumologia y Alergias, San Pedro Sula 21102, Honduras.
authors.forename: Alvaro
authors.initials: A
authors.lastname: Mayorga
authors.affiliation: Tropical Medicine Research Institute, The University of the West Indies, St. Michael BB11115, Barbados.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Knight-Madden
authors.affiliation: Department of Medicine, Vanderbilt University, Nashville, Tennessee 37232, USA.
authors.forename: Tina
authors.initials: T
authors.lastname: Hartert
authors.affiliation: Department of Medicine, Johns Hopkins University, Baltimore, Maryland 21224, USA.
authors.forename: Nadia N
authors.initials: NN
authors.lastname: Hansel
authors.affiliation: Pulmonary and Critical Care Medicine, Morehouse School of Medicine, Atlanta, Georgia 30310, USA.
authors.forename: Marilyn G
authors.initials: MG
authors.lastname: Foreman
authors.affiliation: Department of Epidemiology, Bloomberg School of Public Health, JHU, Baltimore, Maryland 21205, USA.|Department of Medicine, The Brooklyn Hospital Center, Brooklyn, New York 11201, USA.
authors.forename: Jean G
authors.initials: JG
authors.lastname: Ford
authors.affiliation: National Human Genome Center, Howard University College of Medicine, Washington DC 20059, USA.
authors.forename: Mezbah U
authors.initials: MU
authors.lastname: Faruque
authors.affiliation: National Human Genome Center, Howard University College of Medicine, Washington DC 20059, USA.|Department of Microbiology, Howard University College of Medicine, Washington DC 20059, USA.
authors.forename: Georgia M
authors.initials: GM
authors.lastname: Dunston
authors.affiliation: Institute for Immunological Research, Universidad de Cartagena, Cartagena 130000, Colombia.
authors.forename: Luis
authors.initials: L
authors.lastname: Caraballo
authors.affiliation: Department of Medicine, University of California, San Francisco, San Francisco, California 94143, USA.|Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, California 94158, USA.
authors.forename: Esteban G
authors.initials: EG
authors.lastname: Burchard
authors.affiliation: Center for Human Genomics and Personalized Medicine, Wake Forest School of Medicine, Winston-Salem, North Carolina 27157, USA.
authors.forename: Eugene
authors.initials: E
authors.lastname: Bleecker
authors.affiliation: Immunology Service, Universidade Federal da Bahia, Salvador 401110170, Brazil.
authors.forename: Maria Ilma
authors.initials: MI
authors.lastname: Araujo
authors.affiliation: Centro de Neumologia y Alergias, San Pedro Sula 21102, Honduras.|Faculty of Medicine, Centro Medico de la Familia, San Pedro Sula 21102, Honduras.|Facultad de Medicina, Universidad Catolica de Honduras, San Pedro Sula 21102, Honduras.
authors.forename: Edwin Francisco
authors.initials: EF
authors.lastname: Herrera-Paz
authors.affiliation: Illumina, Inc., San Diego, California 92122, USA.
authors.forename: Kimberly
authors.initials: K
authors.lastname: Gietzen
authors.affiliation: Knome Inc., Cambridge, Massachusetts 02141, USA.
authors.forename: Wendy E
authors.initials: WE
authors.lastname: Grus
authors.affiliation: Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Bamshad
authors.affiliation: Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA.
authors.forename: Carlos D
authors.initials: CD
authors.lastname: Bustamante
authors.affiliation: Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA.|Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.
authors.forename: Eimear E
authors.initials: EE
authors.lastname: Kenny
authors.affiliation: Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, California 94158, USA.|Institute for Human Genetics, University of California, San Francisco, San Francisco, California 94143, USA.|California Institute for Quantitative Biosciences, University of California, San Francisco, California 94143, USA.
authors.forename: Ryan D
authors.initials: RD
authors.lastname: Hernandez
authors.affiliation: Department of Epidemiology, Bloomberg School of Public Health, JHU, Baltimore, Maryland 21205, USA.
authors.forename: Terri H
authors.initials: TH
authors.lastname: Beaty
authors.affiliation: Department of Biostatistics, Bloomberg School of Public Health, JHU, Baltimore, Maryland 21205, USA.
authors.forename: Ingo
authors.initials: I
authors.lastname: Ruczinski
authors.affiliation: Department of Genomic Sciences, University of Washington, Seattle, Washington 98195, USA.
authors.forename: Joshua
authors.initials: J
authors.lastname: Akey
authors.affiliation: Department of Medicine, Johns Hopkins University, Baltimore, Maryland 21224, USA.|Department of Epidemiology, Bloomberg School of Public Health, JHU, Baltimore, Maryland 21205, USA.
authors.forename: Kathleen C
authors.initials: KC
authors.lastname: Barnes
mesh_terms: D001483:Base Sequence; D044383:Black People / Q000235:genetics*; D021901:DNA, Intergenic / Q000235:genetics; D005260:Female; D051456:Gene Flow; D018740:Genetic Heterogeneity; D015894:Genome, Human; D005843:Geography; D063426:Human Migration; D006801:Humans; D008297:Male; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D063507:Sexism
chemical_list: D021901:DNA, Intergenic