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A global reference for human genetic variation
  • Adam Gonçalo R. David M. Richard M. Gonçalo R. David R. Auton Abecasis Altshuler Durbin Abecasis Bentley C, A. Auton, Shane A. McCarthy
  • Biology
    Nature
  • 30 September 2015
TLDR
The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations, and has reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-generation sequencing, deep exome sequencing, and dense microarray genotyping.
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The Genetic Structure and History of Africans and African Americans
TLDR
A detailed genetic analysis of most major groups of African populations is provided, suggesting that Africans represent 14 ancestral populations that correlate with self-described ethnicity and shared cultural and/or linguistic properties.
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Convergent adaptation of human lactase persistence in Africa and Europe
TLDR
A genotype-phenotype association study in Tanzanians, Kenyans and Sudanese and identified three SNPs that are associated with lactase persistence and that have derived alleles that significantly enhance transcription from the LCT promoter in vitro, providing a marked example of convergent evolution due to strong selective pressure resulting from shared cultural traits.
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The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
TLDR
It is demonstrated that indigenous Australians, New Guineans and Andamanese do not derive substantial ancestry from an early dispersal of modern humans; instead, their modern human ancestry is consistent with coming from the same source as that of other non-Africans.
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Great ape genetic diversity and population history
TLDR
This comprehensive catalogue of great ape genome diversity provides a framework for understanding evolution and a resource for more effective management of wild and captive great ape populations.
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Ancient human genomes suggest three ancestral populations for present-day Europeans
TLDR
It is shown that most present-day Europeans derive from at least three highly differentiated populations: west European hunter-gatherers, who contributed ancestry to all Europeans but not to Near Easterners; ancient north Eurasians related to Upper Palaeolithic Siberians; and early European farmers, who were mainly of Near Eastern origin but also harboured west Europeanhunter-gatherer related ancestry.
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A high-density admixture map for disease gene discovery in african americans.
TLDR
This map provides a practical and powerful tool, which is freely available without restriction, for screening for disease genes in African American patient cohorts, and is especially appropriate for those diseases that differ in incidence between the parental African and European populations.
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Genome-wide patterns of population structure and admixture in West Africans and African Americans
Quantifying patterns of population structure in Africans and African Americans illuminates the history of human populations and is critical for undertaking medical genomic studies on a global scale.…
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Haplotype Diversity and Linkage Disequilibrium at Human G6PD: Recent Origin of Alleles That Confer Malarial Resistance
TLDR
The hypothesis that malaria has had a major impact on humans only since the introduction of agriculture within the past 10,000 years is supported and the locus of “A−” and ”Med” mutations provides a striking example of the signature of selection on the human genome.
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Patterns of human genetic diversity: implications for human evolutionary history and disease.
TLDR
Comparative studies across ethnically diverse human populations and across human and nonhuman primate species is important for reconstructing human evolutionary history and for understanding the genetic basis of human disease.
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