Journal
NATURE GENETICS
Volume 48, Issue 6, Pages 593-+Publisher
NATURE PORTFOLIO
DOI: 10.1038/ng.3559
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Funding
- National Science Foundation (NSF) [DGE-1147470]
- National Library of Medicine [LM-007033]
- Wellcome Trust [098051, 085532, 095908, 104947]
- National Institutes of Health (NIH) [1R01GM090087]
- NSF [DMS-1201234]
- Stanford Center for Computational, Evolutionary and Human Genomics (CEHG)
- AWS Education Grant
- NIJ award [2014-DN-BX-K089]
- Fundacion Barrie Fellowship
- Australian Research Council [DP140103164, FT110100972]
- National Defense Science and Engineering Graduate Fellowship
- European Molecular Biology Laboratory
- Sanger Institute through an EBI-Sanger Postdoctoral Fellowship
- SAP grant [115016]
- NIH [U41HG007497, 5R01HG003229-09]
- Australian Research Council [FT110100972] Funding Source: Australian Research Council
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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.
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