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Lookup NU author(s): Professor Heather Cordell
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
I present a summary of the results and discussions held within the working group on gene-based tests at Genetic Analysis Workshop 18 (GAW18). The main focus of interest in our working group was modeling the action of combinations or " groups" of genetic variants, with a group of variants most often defined as a set of single-nucleotide polymorphisms lying within a known gene. Some contributions investigated the performance of previously proposed methods (particularly rare variant collapsing or burden-type methods) for addressing this question, applied to the GAW18 data, and other contributions developed novel approaches and addressed novel questions. Most approaches were successful in detecting significant effects at MAP4 in the simulated data. No other genetic effects were consistently detected across different analyses. Low power was noted, particularly for those methods that restricted analysis to purely the subset of unrelated individuals. (C) 2014 Wiley Periodicals, Inc.
Author(s): Cordell HJ
Publication type: Article
Publication status: Published
Journal: Genetic Epidemiology
Year: 2014
Volume: 38
Issue: Suppl. 1
Pages: S44-S48
Print publication date: 01/09/2014
Online publication date: 11/08/2014
Date deposited: 10/10/2014
ISSN (print): 0741-0395
ISSN (electronic): 1098-2272
Publisher: Wiley-Blackwell
URL: http://dx.doi.org/10.1002/gepi.21824
DOI: 10.1002/gepi.21824
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