You are here

Eur J Hum Genet DOI:10.1038/ejhg.2014.91

Improving accuracy of rare variant imputation with a two-step imputation approach.

Publication TypeJournal Article
Year of Publication2015
AuthorsKreiner-Møller, E, Medina-Gomez, C, Uitterlinden, AG, Rivadeneira, F, Estrada, K
JournalEur J Hum Genet
Volume23
Issue3
Pages395-400
Date Published2015 Mar
ISSN1476-5438
KeywordsAged, Alleles, Gene Frequency, Genetic Variation, Genome-Wide Association Study, Genotype, Genotyping Techniques, Humans, Middle Aged, Polymorphism, Single Nucleotide, Reproducibility of Results
Abstract

Genotype imputation has been the pillar of the success of genome-wide association studies (GWAS) for identifying common variants associated with common diseases. However, most GWAS have been run using only 60 HapMap samples as reference for imputation, meaning less frequent and rare variants not being comprehensively scrutinized. Next-generation arrays ensuring sufficient coverage together with new reference panels, as the 1000 Genomes panel, are emerging to facilitate imputation of low frequent single-nucleotide polymorphisms (minor allele frequency (MAF)

URLhttp://dx.doi.org/10.1038/ejhg.2014.91
DOI10.1038/ejhg.2014.91
Pubmed

http://www.ncbi.nlm.nih.gov/pubmed/24939589?dopt=Abstract

Alternate JournalEur. J. Hum. Genet.
PubMed ID24939589
PubMed Central IDPMC4326719