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Nature Research, Nature Genetics, 6(48), p. 593-599

DOI: 10.1038/ng.3559



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Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences.

Journal article published in 2016 by Poznik Gd, X. Zheng Bradley, Yiming Zhu, Xiangqun Zheng-Bradley, Hongmei Zhu, Guillermo del Angel, Jiayong Zhu, Mendez Fl, Willems Tf, Wilson Sayres Ma, McCarthy Sa, Y. Chen, G. David Poznik ORCID, Rodriguez Flores Jl, Ritchie Gr and other authors.
This paper is available in a repository.
This paper is available in a repository.

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We report the sequences of 1,244 human Y chromosomes randomly ascertained from 26 worldwide populations by the 1000 Genomes Project. We discovered more than 65,000 variants, including single-nucleotide variants, multiple-nucleotide variants, insertions and deletions, short tandem repeats, and copy number variants. Of these, copy number variants contribute the greatest predicted functional impact. We constructed a calibrated phylogenetic tree on the basis of binary single-nucleotide variants and projected the more complex variants onto it, estimating the number of mutations for each class. Our phylogeny shows bursts of extreme expansion in male numbers that have occurred independently among each of the five continental superpopulations examined, at times of known migrations and technological innovations. Nat Genet 2016 Jun; 48(6): 593-9