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Abstract Details
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Activity Number:
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591
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Type:
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Invited
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Date/Time:
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Thursday, August 4, 2011 : 8:30 AM to 10:20 AM
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Sponsor:
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Section on Statistics in Epidemiology
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| Abstract - #300430 |
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Title:
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Statistical Analysis of Copy Number Variations in Family-Based Genome-Wide Association Studies
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Author(s):
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Jianxin Shi*+
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Companies:
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DCEG/NCI
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Address:
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Biostatistical Branch, Rockville, MD, 20852,
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Keywords:
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Copy number variants ;
Genome-wide association studies ;
family study
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Abstract:
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Germline copy number variants (CNVs) have received increasing attentions in large scale genome-wide association studies (GWAS) in the past few years. The CNV calling algorithms for unrelated subjects have low power for short CNVs and may cause Mendelian inconsistencies in each family. PennCNV, a state of art CNV algorithm, has an option to simultaneously call CNVs in one family trio. However, PennCNV is slow and is not computationally feasible to analyze bigger families in GWAS. Here, we present a computationally efficient algorithm for jointly calling CNVs in extended pedigrees. Our algorithm greatly improves the power of detecting short inherited CNVs as well as the inference of the CNV boundaries. Our algorithm can infer chromosome-specific CNVs, which allows examining the imprinting effect of the CNVs on the trait. The application to family-based GWAS of testicular germ cell tumors (TGCT) and Schizophrenia will be discussed.
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The address information is for the authors that have a + after their name.
Authors who are presenting talks have a * after their name.
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