publication . Article . Other literature type . 2013

GIGI: an approach to effective imputation of dense genotypes on large pedigrees.

Ellen M. Wijsman;
Open Access English
  • Published: 01 Apr 2013 Journal: The American Journal of Human Genetics, issue 4, pages 504-516 (issn: 00029297, Copyright policy)
  • Publisher: The American Society of Human Genetics. Published by Elsevier Inc.
Recent emergence of the common-disease-rare-variant hypothesis has renewed interest in the use of large pedigrees for identifying rare causal variants. Genotyping with modern sequencing platforms is increasingly common in the search for such variants but remains expensive and often is limited to only a few subjects per pedigree. In population-based samples, genotype imputation is widely used so that additional genotyping is not needed. We now introduce an analogous approach that enables computationally efficient imputation in large pedigrees. Our approach samples inheritance vectors (IVs) from a Markov Chain Monte Carlo sampler by conditioning on genotypes from ...
free text keywords: Article, Genetics(clinical), Genetics
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