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Integrating common and rare genetic variation in diverse human populations
Despite great progress in identifying genetic variants that influence human disease, most inherited risk remains unexplained. A more complete understanding requires genome-wide studies that fullyExpand
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Host genetic variation impacts microbiome composition across human body sites
BackgroundThe composition of bacteria in and on the human body varies widely across human individuals, and has been associated with multiple health conditions. While microbial communities areExpand
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Measurement of the human allele frequency spectrum demonstrates greater genetic drift in East Asians than in Europeans
Large data sets on human genetic variation have been collected recently, but their usefulness for learning about history and natural selection has been limited by biases in the ways polymorphismsExpand
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Accelerated genetic drift on chromosome X during the human dispersal out of Africa
Comparisons of chromosome X and the autosomes can illuminate differences in the histories of males and females as well as shed light on the forces of natural selection. We compared the patterns ofExpand
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The History of African Gene Flow into Southern Europeans, Levantines, and Jews
Previous genetic studies have suggested a history of sub-Saharan African gene flow into some West Eurasian populations after the initial dispersal out of Africa that occurred at least 45,000 yearsExpand
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Extensive pathogenicity of mitochondrial heteroplasmy in healthy human individuals
Significance There are hundreds to thousands of copies of mitochondrial DNA (mtDNA) in each human cell in contrast to only two copies of nuclear DNA. High-frequency pathogenic mtDNA mutations haveExpand
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Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants
Exponential Growth Effects Humans are an extraordinarily successful species, as measured by our large population size—approximately 7 billion—much of which can be put down to recent explosive growth.Expand
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Contrasting X-linked and autosomal diversity across 14 human populations.
Contrasting the genetic diversity of the human X chromosome (X) and autosomes has facilitated understanding historical differences between males and females and the influence of natural selection.Expand
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Neutral genomic regions refine models of recent rapid human population growth
Significance Recent rapid growth of human populations predicts that a large number of genetic variants in populations today are very rare, i.e., appear in a small number of individuals. This effectExpand
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Fair Attribution of Functional Contribution in Artificial and Biological Networks
TLDR
This letter presents the multi-perturbation Shapley value analysis (MSA), an axiomatic, scalable, and rigorous method for deducing causal function localization from multiple perturbations data. Expand
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