气候变化领域集成服务门户(CCPortal): Insights into human genetic variation and population history from 929 diverse genomes

CCPortal

DOI	10.1126/science.aay5012
	Insights into human genetic variation and population history from 929 diverse genomes
	Bergström A.; McCarthy S.A.; Hui R.; Almarri M.A.; Ayub Q.; Danecek P.; Chen Y.; Felkel S.; Hallast P.; Kamm J.; Blanché H.; Deleuze J.-F.; Cann H.; Mallick S.; Reich D.; Sandhu M.S.; Skoglund P.; Scally A.; Xue Y.; Durbin R.; Tyler-Smith C.
发表日期	2020
ISSN	0036-8075
卷号	367 期号:6484
英文摘要	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. © 2020 American Association for the Advancement of Science. All rights reserved.
关键词	ecozone effective population size genetic variation genome geographical region hunter-gatherer Neanderthal population size Africa article genetic variation Homo denisovan human hunter-gatherer nonhuman population size ancestry group animal Asia copy number variation genetics haplotype hominid Homo neanderthalensis human genome indel mutation Pacific islands phylogeny population density population genetics single nucleotide polymorphism Western Hemisphere whole genome sequencing Africa Central America North America South America Africa Americas Animals Asia Continental Population Groups DNA Copy Number Variations Genetic Variation Genetics, Population Genome, Human Haplotypes Hominidae Humans INDEL Mutation Neanderthals Oceania Phylogeny Polymorphism, Single Nucleotide Population Density Whole Genome Sequencing
语种	英语
来源机构	Science
文献类型	期刊论文
条目标识符	http://gcip.llas.ac.cn/handle/2XKMVOVA/133615
推荐引用方式 GB/T 7714	Bergström A.,McCarthy S.A.,Hui R.,et al. Insights into human genetic variation and population history from 929 diverse genomes[J]. Science,2020,367(6484).
APA	Bergström A..,McCarthy S.A..,Hui R..,Almarri M.A..,Ayub Q..,...&Tyler-Smith C..(2020).Insights into human genetic variation and population history from 929 diverse genomes.,367(6484).
MLA	Bergström A.,et al."Insights into human genetic variation and population history from 929 diverse genomes".367.6484(2020).