Mallick Swapan, Li Heng, Lipson Mark, Mathieson Iain, Gymrek Melissa, Racimo Fernando, Zhao Mengyao, Chennagiri Niru, Nordenfelt Susanne, Tandon Arti, Skoglund Pontus, Lazaridis Iosif, Sankararaman Sriram, Fu Qiaomei, Rohland Nadin, Renaud Gabriel, Erlich Yaniv, Willems Thomas, Gallo Carla, Spence Jeffrey P, Song Yun S, Poletti Giovanni, Balloux Francois, van Driem George, de Knijff Peter, Romero Irene Gallego, Jha Aashish R, Behar Doron M, Bravi Claudio M, Capelli Cristian, Hervig Tor, Moreno-Estrada Andres, Posukh Olga L, Balanovska Elena, Balanovsky Oleg, Karachanak-Yankova Sena, Sahakyan Hovhannes, Toncheva Draga, Yepiskoposyan Levon, Tyler-Smith Chris, Xue Yali, Abdullah M Syafiq, Ruiz-Linares Andres, Beall Cynthia M, Di Rienzo Anna, Jeong Choongwon, Starikovskaya Elena B, Metspalu Ene, Parik Jüri, Villems Richard, Henn Brenna M, Hodoglugil Ugur, Mahley Robert, Sajantila Antti, Stamatoyannopoulos George, Wee Joseph T S, Khusainova Rita, Khusnutdinova Elza, Litvinov Sergey, Ayodo George, Comas David, Hammer Michael F, Kivisild Toomas, Klitz William, Winkler Cheryl A, Labuda Damian, Bamshad Michael, Jorde Lynn B, Tishkoff Sarah A, Watkins W Scott, Metspalu Mait, Dryomov Stanislav, Sukernik Rem, Singh Lalji, Thangaraj Kumarasamy, Pääbo Svante, Kelso Janet, Patterson Nick, Reich David
Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA.
Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA.
Nature. 2016 Oct 13;538(7624):201-206. doi: 10.1038/nature18964. Epub 2016 Sep 21.
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.
在此,我们报告西蒙斯基因组多样性项目数据集:来自142个不同人群的300个人的高质量基因组。这些基因组包含至少580万个在人类参考基因组中不存在的碱基对。我们的分析揭示了人类基因组变异格局的关键特征,包括自分化以来,与非洲人相比,非非洲人的突变积累速率加快了约5%。我们表明,一些现代人类群体对的祖先在10万年前就已大幅分离,远早于考古学证实的行为现代性的出现。我们还证明,澳大利亚原住民、新几内亚人和安达曼人并非源自现代人类的早期扩散;相反,他们的现代人类祖先与其他非非洲人来自同一来源。