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Ancient Admixture in Human History
A suite of methods for learning about population mixtures are presented, implemented in a software package called ADMIXTOOLS, that support formal tests for whether mixture occurred and make it possible to infer proportions and dates of mixture.
Genetic history of an archaic hominin group from Denisova Cave in Siberia
A tooth found in Denisova Cave carries a mitochondrial genome highly similar to that of the finger bone, further indicating that Denisovans have an evolutionary history distinct from Neanderthals and modern humans.
Massive migration from the steppe was a source for Indo-European languages in Europe
We generated genome-wide data from 69 Europeans who lived between 8,000–3,000 years ago by enriching ancient DNA libraries for a target set of almost 400,000 polymorphisms. Enrichment of these…
A High-Coverage Genome Sequence from an Archaic Denisovan Individual
The genomic sequence provides evidence for very low rates of heterozygosity in the Denisova, probably not because of recent inbreeding, but instead because of a small population size, and illuminates the relationships between humans and archaics, including Neandertals, and establishes a catalog of genetic changes within the human lineage.
The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
It is demonstrated 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.
The complete genome sequence of a Neanderthal from the Altai Mountains
Kay Prüfer, Fernando Racimo, Nick Patterson, Flora Jay, Sriram Sankararaman, Susanna Sawyer, Anja Heinze, Gabriel Renaud, Peter H. Sudmant, Cesare de Filippo, Heng Li, Swapan Mallick, Michael…
Genome-wide patterns of selection in 230 ancient Eurasians
A genome-wide scan for selection using ancient DNA is reported, capitalizing on the largest ancient DNA data set yet assembled: 230 West Eurasians who lived between 6500 and 300 bc, including 163 with newly reported data.
A framework for the interpretation of de novo mutation in human disease
This model is used to identify ∼1,000 genes that are significantly lacking in functional coding variation in non-ASD samples and are enriched for de novo loss-of-function mutations identified in ASD cases, suggesting that the role of de noVO mutations in ASDs might reside in fundamental neurodevelopmental processes.
Ancient human genomes suggest three ancestral populations for present-day Europeans
It is shown that the great majority of present-day Europeans derive from at least three highly differentiated populations: West European Hunter-Gatherers (WHG), who contributed ancestry to all Europeans but not to Near Easterners; Ancient North Eurasians (ANE); and Early European Farmers (EEF), who were mainly of Near Eastern origin but also harbored WHG-related ancestry.
The complete genome sequence of a Neandertal from the Altai Mountains
It is shown that interbreeding, albeit of low magnitude, occurred among many hominin groups in the Late Pleistocene and a definitive list of substitutions that became fixed in modern humans after their separation from the ancestors of Neanderthals and Denisovans is established.