This is the program for the 2010 Joint Statistical Meetings in Vancouver, British Columbia.

Abstract Details

Activity Number: 100
Type: Invited
Date/Time: Monday, August 2, 2010 : 8:30 AM to 10:20 AM
Sponsor: Section on Statistics in Epidemiology
Abstract - #306127
Title: Finding Rare Variants Affecting Disease Risk
Author(s): Kathryn Roeder*+
Companies: Carnegie Mellon University
Address: , , ,

Sequencing can be used to discover genes with rare variants that affect complex phenotypes. A complication is that a variant may be neutral, risk, or protective. We propose testing for the presence of this mixture of effects across a set of rare variants in a gene. However, this test is sensitive to differences in ancestry of cases and controls. PCA is routinely used to summarize the genetic similarity between subjects. The eigenvectors are interpreted as dimensions of ancestry. We build on this idea using a spectral graph approach that produces more meaningful delineation of ancestry. Once an eigenmap is constructed, new individuals can be projected onto the map based on their genotypes. This provides a tool for selecting controls from available sources with ancestry matched to cases, thus avoiding confounding in our tests for the effect of rare variants on a phenotype.

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