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

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Title: Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences
Author(s): Poznik, GD
Xue, Y
Mendez, FL
Willems, TF
Massaia, A
Wilson Sayres, MA
Ayub, Q
McCarthy, SA
Narechania, A
Kashin, S
Chen, Y
Banerjee, R
Rodriguez-Flores, JL
Cerezo, M
Shao, H
Gymrek, M
Malhotra, A
Louzada, S
Desalle, R
Ritchie, GR
Cerveira, E
Fitzgerald, TW
Garrison, E
Marcketta, A
Mittelman, D
Romanovitch, M
Zhang, C
Zheng-Bradley, X
Abecasis, GR
McCarroll, SA
Flicek, P
Underhill, PA
Coin, L
Zerbino, DR
Yang, F
Lee, C
Clarke, L
Auton, A
Erlich, Y
Handsaker, RE
1000 Genomes Project Consortium
Bustamante, CD
Tyler-Smith, C
Item Type: Journal Article
Abstract: 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.
Publication Date: 25-Apr-2016
Date of Acceptance: 1-Apr-2016
URI: http://hdl.handle.net/10044/1/34198
DOI: http://dx.doi.org/10.1038/ng.3559
ISSN: 1546-1718
Publisher: Nature Publishing Group
Start Page: 593
End Page: 599
Journal / Book Title: Nature Genetics
Volume: 48
Issue: 6
Copyright Statement: © 2016 Nature America, Inc. All rights reserved.
Keywords: 1000 Genomes Project Consortium
Developmental Biology
11 Medical And Health Sciences
06 Biological Sciences
Publication Status: Published
Appears in Collections:Faculty of Medicine
Epidemiology, Public Health and Primary Care



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