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

• DOI: 10.1126/science.aay5012
• Publication Date: 2020-03-19T23:05:41Z
• Authors: Anders Bergström; Shane A. McCarthy; Ruoyun Hui; Mohamed A. Almarri; Qasim Ayub; Petr Danecek; Yuan Chen; Sabine Felkel; Pille Hallast; Jack Kamm; Hélène Blanché; Jean-François Del...; Howard Cann; Swapan Mallick; David Reich; Manjinder S. Sandhu; Pontus Skoglund; Aylwyn Scally; Yali Xue; Richard Durbin; Chris Tyler-Smith
• Keywords: 0301 basic medicine; 570; Asia; DNA Copy Number Variations; Oceania; Polymorphism, Single Nucleotide; 576; 03 medical and health sciences; INDEL Mutation; [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN]; Animals; Humans; Phylogeny; Neanderthals; Population Density; [SDV.GEN]Life Sciences [q-bio]/Genetics; Whole Genome Sequencing; Genome, Human; Racial Groups; Genetic Variation; Hominidae; Genetics, Population; Haplotypes; Africa; Americas

Genomes from around the globe

Genomic sequencing of diverse human populations to understand overall genetic diversity has lagged behind in-depth examination of specific populations. To add to our understanding of human genetic diversity, Bergström et al. generated whole-genome sequences surveying individuals in the Human Genome Diversity Project, which is a panel of global populations that has been instrumental in understanding the history of human populations. The authors' study adds data about African, Oceanian, and Amerindian populations and indicates that diversity tends to result from differences at the single-nucleotide level rather than copy number variation. An analysis of archaic sequences in modern populations identifies ancestral genetic variation in African populations that likely predates modern humans and has been lost in most non-African populations.

Science , this issue p. eaay5012