publication . Other literature type . Article . 2013

GIGI: An Approach to Effective Imputation of Dense Genotypes on Large Pedigrees

Cheung, Charles Y.K.; Thompson, Elizabeth A.; Wijsman, Ellen M.;
  • Published: 01 Apr 2013
  • Publisher: Elsevier BV
Abstract
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 ...
Subjects
free text keywords: Article, Genetics(clinical), Genetics, Genotyping, Imputation (genetics), Genome-wide association study, Imputation (statistics), Pedigree chart, Markov chain Monte Carlo, symbols.namesake, symbols, Population, education.field_of_study, education, Allele frequency, Biology
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