publication . Article . Other literature type . 2007

A new multipoint method for genome-wide association studies by imputation of genotypes

Marchini, J; Howie, B; Myers, S; McVean, G; Donnelly, P;
  • Published: 17 Jun 2007 Journal: Nature Genetics, volume 39, pages 906-913 (issn: 1061-4036, eissn: 1546-1718, Copyright policy)
  • Publisher: Springer Science and Business Media LLC
  • Country: United Kingdom
Genome-wide association studies are set to become the method of choice for uncovering the genetic basis of human diseases. A central challenge in this area is the development of powerful multipoint methods that can detect causal variants that have not been directly genotyped. We propose a coherent analysis framework that treats the problem as one involving missing or uncertain genotypes. Central to our approach is a model-based imputation method for inferring genotypes at observed or unobserved SNPs, leading to improved power over existing methods for multipoint association mapping. Using real genome-wide association study data, we show that our approach (i) is ...
free text keywords: Genetic association, Imputation (statistics), Genome-wide association study, Imputation (genetics), Genetics, Human genome, Single-nucleotide polymorphism, Biology, Association mapping, Tag SNP
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