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A reference panel of 64,976 haplotypes for genotype imputation

Mccarthy, Shane
•
Das, Sayantan
•
Kretzschmar, Warren
altro
Durbin, Richard
2016
  • journal article

Periodico
NATURE GENETICS
Abstract
We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly European ancestry. Using this resource leads to accurate genotype imputation at minor allele frequencies as low as 0.1% and a large increase in the number of SNPs tested in association studies, and it can help to discover and refine causal loci. We describe remote server resources that allow researchers to carry out imputation and phasing consistently and efficiently.
DOI
10.1038/ng.3643
WOS
WOS:000384391600025
Archivio
http://hdl.handle.net/11368/2881315
info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84983479616
http://www.nature.com/ng/journal/v48/n10/abs/ng.3643.html
Diritti
closed access
FVG url
https://arts.units.it/request-item?handle=11368/2881315
Soggetti
  • Medicine (all)

  • Genetics

Scopus© citazioni
1173
Data di acquisizione
Jun 14, 2022
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Web of Science© citazioni
1611
Data di acquisizione
Mar 19, 2024
Visualizzazioni
1
Data di acquisizione
Apr 19, 2024
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