Abstract Details
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Activity Number:
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186
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Type:
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Contributed
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Date/Time:
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Monday, August 4, 2014 : 10:30 AM to 12:20 PM
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Sponsor:
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Biometrics Section
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Abstract #313035
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Title:
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Imputation of Rare Genetic Variants
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Author(s):
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Thomas Hoffmann*+
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Companies:
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University of California, San Francisco
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Keywords:
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GWAS ;
Imputation
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Abstract:
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Rare variants may be responsible for a significant amount of the uncharacterized genetic risk underlying many diseases. Genome-wide association studies often assay ~0.75 million or more variants. Imputation is a process of using the multi-marker correlation structure in regions to fill in additional variants from a set of independent subjects who have been sequenced at a much denser set of variants (tens of millions). However, it is still unclear how well imputation will work for very rare variants -- some studies have shown that it is possible, and others have reported difficulties. We explore this in a large cohort.
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Authors who are presenting talks have a * after their name.
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