Abstract #300934

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JSM 2003 Abstract #300934
Activity Number: 337
Type: Contributed
Date/Time: Wednesday, August 6, 2003 : 8:30 AM to 10:20 AM
Sponsor: Biopharmaceutical Section
Abstract - #300934
Title: An EM Algorithm for Haplotype Frequency Estimation Using Parent-offspring Trios
Author(s): Xiang Yu*+ and Dahlia Nielsen and Bruce S. Weir
Companies: North Carolina State University and North Carolina State University and North Carolina State University, Raleigh
Address: 105 Kempwood Dr. Apt. 2A, Cary, NC, 27513-9611,
Keywords: haplotype ; trio
Abstract:

Inferring haplotypes from genotype data is generally accomplished with the EM algorithm for samples of unrelated individuals or by examination of parent-offspring transmissions in pedigrees. The EM algorithm cannot be used when there are dependencies among individuals, and pedigree methods are hampered when multiple loci are heterozygous. We propose a modified EM algorithm under the assumption of Hardy-Weinberg equilibrium (HWE) to infer the maximum likelihood estimates of haplotype frequencies using parent-offspring trios, so that we combine the advantages of unrelated samples and family data. By considering only the haplotypes that could possibly have been transmitted from parent to offspring, our EM algorithm can appropriately take into account the family dependencies. This new EM algorithm also carefully handles the common situation of not all loci being typed for all individuals. Simulation studies show the new algorithm to be superior to the usual EM algorithm that uses only independent parents or that uses all individuals but ignores the dependencies.


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