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.
Titolo: | A reference panel of 64,976 haplotypes for genotype imputation |
Autori: | |
Data di pubblicazione: | 2016 |
Rivista: | |
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. |
Handle: | http://hdl.handle.net/11368/2881315 |
Digital Object Identifier (DOI): | http://dx.doi.org/10.1038/ng.3643 |
URL: | http://www.nature.com/ng/journal/v48/n10/abs/ng.3643.html |
Appare nelle tipologie: | 1.1 Articolo in Rivista |
File in questo prodotto:
File | Descrizione | Tipologia | Licenza | |
---|---|---|---|---|
ng.3643.pdf | Documento in Versione Editoriale | Digital Rights Management non definito | Administrator Richiedi una copia |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.