Global diversity, population stratification, and selection of human copy-number variation

• DOI: 10.1126/science.aab3761
• Publication Date: 2015-08-07T02:59:29Z
• Authors: Peter H. Sudmant; Swapan Mallick; Bradley J. Nelson; Fereydoun Hormozd...; Niklas Krumm; John Huddleston; Bradley P. Coe; Carl Baker; Susanne Nordenfelt; Michael Bamshad; Lynn B. Jorde; Olga L. Posukh; Hovhannes Sahakyan; W. Scott Watkins; Levon Yepiskoposyan; M. Syafiq Abdullah; Claudio M. Bravi; Cristian Capelli; Tor Hervig; Joseph T. S. Wee; Chris Tyler-Smith; George van Driem; Irene Gallego Romero; Aashish R. Jha; Sena Karachanak-Y...; Draga Toncheva; David Comas; Brenna Henn; Toomas Kivisild; Andres Ruiz-Linares; Antti Sajantila; Ene Metspalu; Jüri Parik; Richard Villems; Elena B. Starikov...; George Ayodo; Cynthia M. Beall; Anna Di Rienzo; Michael F. Hammer; Rita Khusainova; Elza Khusnutdinova; William Klitz; Cheryl Winkler; Damian Labuda; Mait Metspalu; Sarah A. Tishkoff; Stanislav Dryomov; Rem Sukernik; Nick Patterson; David Reich; Evan E. Eichler
• Keywords: 0301 basic medicine; Native Hawaiian or Other Pacific Islander; population stratification; Evolució molecular; DNA Copy Number Variations; Evolution; General Science & Technology; Population; Black People; global diversity; Genoma humà; Polymorphism, Single Nucleotide; Evolution, Molecular; 03 medical and health sciences; Genetic; Biología Celular, Microbiología; https://purl.org/becyt/ford/1.6; Gene Duplication; Genetics; HUMAN GENOME; Animals; Humans; Polymorphism; Selection, Genetic; https://purl.org/becyt/ford/1; Selection; Phylogeny; COPY NUMBER VARIATION; Sequence Deletion; selection of human copy number variation; Genome; Genome, Human; Polimorfisme genètic; Human Genome; Molecular; Hominidae; Single Nucleotide; INDEL; Duplicació cromosòmica; Human

Duplications and deletions in the human genome

Duplications and deletions can lead to variation in copy number for genes and genomic loci among humans. Such variants can reveal evolutionary patterns and have implications for human health. Sudmant et al. examined copy-number variation across 236 individual genomes from 125 human populations. Deletions were under more selection, whereas duplications showed more population-specific structure. Interestingly, Oceanic populations retain large duplications postulated to have originated in an ancient Denisovan lineage.

Science , this issue 10.1126/science.aab3761