| Literature DB >> 27111036 |
G David Poznik1,2, Yali Xue3, Fernando L Mendez2, Thomas F Willems4,5, Andrea Massaia3, Melissa A Wilson Sayres6,7, Qasim Ayub3, Shane A McCarthy3, Apurva Narechania8, Seva Kashin9, Yuan Chen3, Ruby Banerjee3, Juan L Rodriguez-Flores10, Maria Cerezo3, Haojing Shao11, Melissa Gymrek5,12, Ankit Malhotra13, Sandra Louzada3, Rob Desalle8, Graham R S Ritchie3,14, Eliza Cerveira13, Tomas W Fitzgerald3, Erik Garrison3, Anthony Marcketta15, David Mittelman16,17, Mallory Romanovitch13, Chengsheng Zhang13, Xiangqun Zheng-Bradley14, Gonçalo R Abecasis18, Steven A McCarroll19, Paul Flicek14, Peter A Underhill2, Lachlan Coin11, Daniel R Zerbino14, Fengtang Yang3, Charles Lee13,20, Laura Clarke14, Adam Auton15, Yaniv Erlich5,21,22, Robert E Handsaker9,19, Carlos D Bustamante2,23, Chris Tyler-Smith3.
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.Entities:
Mesh：
Year: 2016 PMID： 27111036 PMCID： PMC4884158 DOI： 10.1038/ng.3559
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330