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Activity Number: 486
Type: Contributed
Date/Time: Thursday, August 7, 2008 : 8:30 AM to 10:20 AM
Sponsor: Biometrics Section
Abstract - #301089
Title: Rapid Genotype Imputation and Analysis of Resequencing Data Using Markov Models
Author(s): Yun Li*+ and Cristen Willer and Jun Ding and Paul Scheet and Goncalo Abecasis
Companies: The University of Michigan and The University of Michigan and The University of Michigan and The University of Michigan and The University of Michigan
Address: 1071 Barton Dr Apt205, Ann Arbor, MI, 48105,
Keywords: genotype imputation ; GWAS ; Markov model ; meta-analysis ; resequencing ; gene mapping
Abstract:

I propose and implement efficient Markov models for genome wide association studies (GWAS), a more powerful tool to detect genetic variants with small individual contributions to complex traits. Specifically, I consider how to impute several million common SNPs not typed in a GWAS. Imputation-enabled meta-analyses identified multiple novel loci influencing risk of diabetes, coronary artery disease, height, or lipid levels. I also consider how to obtain accurate estimates of individual sequences from shotgun resequencing data. My method allows the more cost-effective more-individual-lower-coverage design both for generating a public resequencing database and for capturing variants in individual resequencing based GWAS. My approach should stimulate the advent of large-scale resequencing based GWAS and foster the detection of rare variants not adequately assessed with current approaches.


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Revised September, 2008