Detection of rare functional variants using group ISIS

Genome-wide association studies have been firmly established in investigations of the associations between common genetic variants and complex traits or diseases. However, a large portion of complex traits and diseases cannot be explained well by common variants. Detecting rare functional variants b...

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Bibliographic Details
Main Authors: Niu, Yue, Hao, Ning, An, Lingling
Other Authors: Department of Mathematics, The University of Arizona, Tucson, AZ 85721, USA
Language:en
Published: BioMed Central 2011
Online Access:Niu et al. BMC Proceedings 2011, 5(Suppl 9):S108 http://www.biomedcentral.com/1753-6561/5/S9/S108
http://hdl.handle.net/10150/610089
http://arizona.openrepository.com/arizona/handle/10150/610089
Description
Summary:Genome-wide association studies have been firmly established in investigations of the associations between common genetic variants and complex traits or diseases. However, a large portion of complex traits and diseases cannot be explained well by common variants. Detecting rare functional variants becomes a trend and a necessity. Because rare variants have such a small minor allele frequency (e.g., <0.05), detecting functional rare variants is challenging. Group iterative sure independence screening (ISIS), a fast group selection tool, was developed to select important genes and the single-nucleotide polymorphisms within. The performance of the group ISIS and group penalization methods is compared for detecting important genes in the Genetic Analysis Workshop 17 data. The results suggest that the group ISIS is an efficient tool to discover genes and single-nucleotide polymorphisms associated to phenotypes.