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Insights into human genetic variation and population history from 929 diverse genomes

Bergström, Anders ; McCarthy, Shane A ; Hui, Ruoyun ; Almarri, Mohamed A ; Ayub, Qasim ; Danecek, Petr ; Chen, Yuan ; Felkel, Sabine ; Hallast, Pille ; Kamm, Jack ; Blanché, Hélène ; Deleuze, Jean-François ; Cann, Howard ; Mallick, Swapan ; Reich, David ; Sandhu, Manjinder S ; Skoglund, Pontus ; Scally, Aylwyn ; Xue, Yali ; Durbin, Richard ; Tyler-Smith, Chris

Science (American Association for the Advancement of Science), 2020-03, Vol.367 (6484) [Periódico revisado por pares]

United States: The American Association for the Advancement of Science

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Título:
Insights into human genetic variation and population history from 929 diverse genomes
Autor: Bergström, Anders ; McCarthy, Shane A ; Hui, Ruoyun ; Almarri, Mohamed A ; Ayub, Qasim ; Danecek, Petr ; Chen, Yuan ; Felkel, Sabine ; Hallast, Pille ; Kamm, Jack ; Blanché, Hélène ; Deleuze, Jean-François ; Cann, Howard ; Mallick, Swapan ; Reich, David ; Sandhu, Manjinder S ; Skoglund, Pontus ; Scally, Aylwyn ; Xue, Yali ; Durbin, Richard ; Tyler-Smith, Chris
Assuntos: Africa ; Americas ; Animals ; Anthropology ; Asia ; Biochemistry, Molecular Biology ; Copy number ; DNA Copy Number Variations ; Gene flow ; Gene sequencing ; Genetic diversity ; Genetic variance ; Genetic Variation ; Genetics ; Genetics, Population ; Genome, Human ; Genomes ; Genomics ; Genotypes ; Haplotypes ; Harbors ; Hominidae - genetics ; Human populations ; Humans ; Hunter-gatherers ; INDEL Mutation ; Life Sciences ; Linguistics ; Mutation ; Neanderthals - genetics ; Nucleotides ; Oceania ; Phylogeny ; Polymorphism, Single Nucleotide ; Population ; Population Density ; Population genetics ; Population number ; Population studies ; Populations ; Racial Groups - genetics ; Single-nucleotide polymorphism ; Surveying ; Whole Genome Sequencing
É parte de: Science (American Association for the Advancement of Science), 2020-03, Vol.367 (6484)
Notas: PMCID: PMC7115999
These authors contributed equally to this work.
Deceased.
Descrição: Genome sequences from diverse human groups are needed to understand the structure of genetic variation in our species and the history of, and relationships between, different populations. We present 929 high-coverage genome sequences from 54 diverse human populations, 26 of which are physically phased using linked-read sequencing. Analyses of these genomes reveal an excess of previously undocumented common genetic variation private to southern Africa, central Africa, Oceania, and the Americas, but an absence of such variants fixed between major geographical regions. We also find deep and gradual population separations within Africa, contrasting population size histories between hunter-gatherer and agriculturalist groups in the past 10,000 years, and a contrast between single Neanderthal but multiple Denisovan source populations contributing to present-day human populations.
Editor: United States: The American Association for the Advancement of Science
Idioma: Inglês

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Insights into human genetic variation and population history from 929 diverse genomes

United States: The American Association for the Advancement of Science

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