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In silico method for inferring genotypes in pedigrees

Summary: In silico method for inferring
genotypes in pedigrees
Joshua T Burdick1, Wei-Min Chen2, Gonc¸alo R Abecasis2 &
Vivian G Cheung1,3
Our genotype inference method combines sparse marker
data from a linkage scan and high-resolution SNP genotypes
for several individuals to infer genotypes for related
individuals. We illustrate the method's utility by inferring
over 53 million SNP genotypes for 78 children in the Centre
d'Etude du Polymorphisme Humain families. The method can
be used to obtain high-density genotypes in different family
structures, including nuclear families commonly used in
complex disease gene mapping studies.
Even though groups such as The SNP Consortium1 and the Interna-
tional HapMap Consortium2,3 have identified millions of polymorphic
markers and stimulated the development of high-throughput geno-
typing techniques4­6, genotyping of polymorphic markers remains a
labor-intensive and costly step in genetic mapping studies. To decrease
the cost of family-based genetic studies, we developed a computational
approach that uses high-density genotype data for a subset of


Source: Abecasis, Goncalo - Department of Biostatistics, University of Michigan


Collections: Biology and Medicine; Mathematics