Improving accuracy of rare variant imputation with a two-step imputation approach.
Eur J Hum Genet
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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) |
Year of Publication | 2015
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Journal | Eur J Hum Genet
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Volume | 23
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Issue | 3
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Pages | 395-400
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Date Published | 2015 Mar
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ISSN | 1476-5438
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URL | |
DOI | 10.1038/ejhg.2014.91
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PubMed ID | 24939589
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PubMed Central ID | PMC4326719
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