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Activity Number: 571
Type: Invited
Date/Time: Wednesday, August 7, 2013 : 2:00 PM to 3:50 PM
Sponsor: Section on Statistics in Epidemiology
Abstract - #307321
Title: Statistical Methods for Studying Rare Variant Effects in Next-Generation Sequencing Association Studies
Author(s): Xihong Lin*+
Companies: Harvard School of Public Health
Keywords: Rare variants ; meta-analysis ; genes and environment ; family studies ; hypothesis testing
Abstract:

An increasing number of large scale sequencing association studies, such as the whole exome and whole genome sequencing studies, have been conducted to identify rare genetic variants associated with disease phenotypes. Testing for rare variant effects in sequencing association studies presents substantial challenges. We first provide an overview of statistical methods for testing for rare variant effects in case-control and cohort studies, and then discuss statistical methods for meta analysis of rare variant effects of multiple sequencing association studies, family sequencing association studies and studies for rare variants and environment interactions. The proposed methods are evaluated using simulation studies and illustrated using data examples.


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