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Abstract Details
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Activity Number:
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640
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Type:
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Invited
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Date/Time:
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Thursday, August 4, 2011 : 10:30 AM to 12:20 PM
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Sponsor:
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ENAR
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| Abstract - #300510 |
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Title:
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A Unified Framework for the Analysis of Rare Variant Data and Implications for Study Design
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Author(s):
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Iuliana Ionita-Laza*+ and Ruth Ottman
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Companies:
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Columbia University and Columbia University
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Address:
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, New York, NY, 10032, USA
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Keywords:
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rare variants ;
study design ;
association testing
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Abstract:
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Rapid advances in sequencing technologies set the stage for large-scale medical sequencing efforts to assess the importance of rare variants in complex diseases. The low frequency and expected large number of such variants pose difficulties for the analysis of these data. We introduce here a new concept for analysis of rare variants in biologically-related individuals: the effective number of rare variants in a set of relatives. This framework allows for unified approaches to the analysis of rare variants that can include both biologically-related cases, and unrelated cases and controls. We show applications on simulated data, and a real disease dataset. Also we discuss implications to study design.
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