Title
The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
Date Issued
01 January 2016
Access level
open access
Resource Type
journal article
Author(s)
Mallick S.
Li H.
Lipson M.
Mathieson I.
Gymrek M.
Racimo F.
Zhao M.
Chennagiri N.
Nordenfelt S.
Tandon A.
Skoglund P.
Lazaridis I.
Sankararaman S.
Fu Q.
Rohland N.
Renaud G.
Erlich Y.
Willems T.
Spence J.P.
Song Y.S.
Balloux F.
Van Driem G.
De Knijff P.
Romero I.G.
Jha A.R.
Behar D.M.
Bravi C.M.
Capelli C.
Hervig T.
Moreno-Estrada A.
Posukh O.L.
Balanovska E.
Balanovsky O.
Karachanak-Yankova S.
Sahakyan H.
Toncheva D.
Yepiskoposyan L.
Tyler-Smith C.
Xue Y.
Abdullah M.S.
Ruiz-Linares A.
Beall C.M.
Di Rienzo A.
Jeong C.
Starikovskaya E.B.
Metspalu E.
Parik J.
Villems R.
Henn B.M.
Hodoglugil U.
Mahley R.
Sajantila A.
Stamatoyannopoulos G.
Wee J.T.S.
Khusainova R.
Khusnutdinova E.
Litvinov S.
Ayodo G.
Comas D.
Hammer M.F.
Kivisild T.
Klitz W.
Winkler C.A.
Labuda D.
Bamshad M.
Jorde L.B.
Tishkoff S.A.
Watkins W.S.
Metspalu M.
Dryomov S.
Sukernik R.
Singh L.
Thangaraj K.
Paäbo S.
Kelso J.
Patterson N.
Reich D.
Publisher(s)
Nature Publishing Group
Abstract
Here we report the Simons Genome Diversity Project data set: 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 behavioural 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 of other non-Africans.
Start page
201
End page
206
Volume
538
Issue
7624
Language
English
OCDE Knowledge area
Genética humana
Scopus EID
2-s2.0-84991728057
PubMed ID
Source
Nature
ISSN of the container
00280836
Sponsor(s)
The sequencing was funded by the Simons Foundation (SFARI 280376) and the US National Science Foundation (BCS-1032255).
Sources of information:
Directorio de Producción Científica
Scopus