The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

HENG LI; MELISSA GYMREK; NIRU CHENNAGIRI; PONTUS SKOGLUND; QIAOMEI FU; YANIV ERLICH; JEFFREY P. SPENCE; FRANCOIS BALLOUX; IRENE GALLEGO ROMERO; CLAUDIO M. BRAVI; ANDRES MORENO-ESTRADA; OLEG BALANOVSKY; DRAGA TONCHEVA; MARK LIPSON; YALI XUE; FERNANDO RACIMO; CYNTHIA M. BEALL; SUSANNE NORDENFELT; ELENA B. STARIKOVSKAYA; IOSIF LAZARIDIS; RICHARD VILLEMS; NADIN ROHLAND; ROBERT MAHLEY; THOMAS WILLEMS; YUN S. SONG; JOSEPH T. S. WEE; GEORGE VAN DRIEM; SERGEY LITVINOV; AASHISH R. JHA; MICHAEL HAMMER; CRISTIAN CAPELLI; CHERYL WINKLER; OLGA L. POSUKH; LYNN B. JORDE; SENA KARACHANAK-YANKOVA; MAIT METSPALU; LALJI SINGH; LEVON YEPISKOPOSYAN; JANET KELSO; M. SYAFIQ ABDULLAH; ANNA DI RIENZO; ENE METSPALU; BRENNA M. HENN; ANTTI SAJANTILA; RITA KHUSAINOVA; GEORGE AYODO; TOOMAS KIVISILD; DAMIAN LABUDA; SARAH A. TISHKOFF; STANISLAV DRYOMOV; KUMARASAMY THANGARAJ; NICK PATTERSON; SWAPAN MALLICK; IAIN MATHIESON; MENGYAO ZHAO; ARTI TANDON; SRIRAM SANKARARAMAN; GABRIEL RENAUD; CARLA GALLO; GIOVANNI POLETTI; PETER DE KNIJFF; DORON M.

NATURE

NATURE PUBLISHING GROUP

Lugar: Londres; Año: 2016 vol. 538 p. 201 - 206

0028-0836

We report the Simons Genome Diversity Project (SGDP) dataset: high quality genomes from 300 individuals from 142 diverse populations. These genomes include at least 5.8 million base pairs that are not present in the human reference genome. Our analysis reveals key features of the landscape of human genome variation, including that the rate of accumulation of mutations has accelerated by about 5% in non-Africans compared to Africans since divergence. We show that the ancestors of some pairs of present-day human populations were substantially separated by 100,000 years ago, well before the archaeologically attested onset of behavioral modernity. We also demonstrate that indigenous Australians, New Guineans and Andamanese do not derive substantial ancestry from an early dispersal of modern humans; instead, their modern human ancestry is consistent with coming from the same source as that in other non-Africans.