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Demographic history and rare allele sharing among human populations

Proceedings of the National Academy of Sciences - PNAS, 2011-07, Vol.108 (29), p.11983-11988 [Peer Reviewed Journal]

copyright © 1993–2008 National Academy of Sciences of the United States of America ;Copyright National Academy of Sciences Jul 19, 2011 ;ISSN: 0027-8424 ;EISSN: 1091-6490 ;DOI: 10.1073/pnas.1019276108 ;PMID: 21730125

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Title:
Demographic history and rare allele sharing among human populations
Author: Gravel, Simon ; Henn, Brenna M ; Gutenkunst, Ryan N ; Indap, Amit R ; Marth, Gabor T ; Clark, Andrew G ; Yu, Fuli ; Gibbs, Richard A ; Bustamante, Carlos D
Subjects: alleles ; Asians ; Biological Sciences ; Chromosomes ; Demographics ; Demography ; Evolution, Molecular ; Exons ; Gene Frequency ; Genes - genetics ; Genetic diversity ; Genetic Drift ; Genetic Variation ; Genetics ; Genetics, Population ; Genomes ; genomics ; Genomics - methods ; high-throughput nucleotide sequencing ; Human genetics ; Humans ; Models, Genetic ; Parametric models ; Population ; Population estimates ; Population genetics ; Population growth ; Population size ; Racial Groups - genetics ; Replication ; Sequence Analysis, DNA ; Sequencing ; Statistics ; surveys
Is Part Of: Proceedings of the National Academy of Sciences - PNAS, 2011-07, Vol.108 (29), p.11983-11988
Description: High-throughput sequencing technology enables population-level surveys of human genomic variation. Here, we examine the joint allele frequency distributions across continental human populations and present an approach for combining complementary aspects of whole-genome, low-coverage data and targeted high-coverage data. We apply this approach to data generated by the pilot phase of the Thousand Genomes Project, including whole-genome 2-4x coverage data for 179 samples from HapMap European, Asian, and African panels as well as high-coverage target sequencing of the exons of 800 genes from 697 individuals in seven populations. We use the site frequency spectra obtained from these data to infer demographic parameters for an Out-of-Africa model for populations of African, European, and Asian descent and to predict, by a jackknife-based approach, the amount of genetic diversity that will be discovered as sample sizes are increased. We predict that the number of discovered nonsynonymous coding variants will reach 100,000 in each population after
Publisher: United States: National Academy of Sciences
Language: English
Identifier: ISSN: 0027-8424
EISSN: 1091-6490
DOI: 10.1073/pnas.1019276108
PMID: 21730125
Source: GFMER Free Medical Journals
MEDLINE
PubMed Central

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Demographic history and rare allele sharing among human populations

copyright © 1993–2008 National Academy of Sciences of the United States of America ;Copyright National Academy of Sciences Jul 19, 2011 ;ISSN: 0027-8424 ;EISSN: 1091-6490 ;DOI: 10.1073/pnas.1019276108 ;PMID: 21730125

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