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Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants
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Journal Article
Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants
2012
Overview
Human populations have experienced recent explosive growth, expanding by at least three orders of magnitude over the past 400 generations. This departure from equilibrium skews patterns of genetic variation and distorts basic principles of population genetics. We characterized the empirical signatures of explosive growth on the site frequency spectrum and found that the discrepancy in rare variant abundance across demographic modeling studies is mostly due to differences in sample size. Rapid recent growth increases the load of rare variants and is likely to play a role in the individual genetic burden of complex disease risk. Hence, the extreme recent human population growth needs to be taken into consideration in studying the genetics of complex diseases and traits.
Publisher
American Association for the Advancement of Science,The American Association for the Advancement of Science
Subject
/ Biological and medical sciences
/ Fundamental and applied biological sciences. Psychology
/ Genetic Predisposition to Disease
/ Genetics
/ Genetics of eukaryotes. Biological and molecular evolution
/ Genetics, Population - methods
/ Genomics
/ Human
/ Humans
/ Modeling
/ Mutation
/ Polymorphism, Single Nucleotide
/ Population genetics, reproduction patterns
/ risk
