Science (New York, N.Y.). pii: 367/6484/eaay5012. doi: 10.1126/science.aay5012 |
Insights into human genetic variation and population history from 929 diverse genomes. |
Bergström A1, McCarthy SA2, Hui R3, Almarri MA4, Ayub Q5, Danecek P6, Chen Y7, Felkel S8, Hallast P9, Kamm J10, Blanché H11, Deleuze JF12, Cann H13, Mallick S14, Reich D15, Sandhu MS16, Skoglund P17, Scally A18, Xue Y19, Durbin R20, Tyler-Smith C21 |
Abstract 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. |
Copyright © 2020 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works. |
Publikations ID: 32193295 Quelle: öffnen |