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This article is part of the supplement: Genetic Analysis Workshop 17: Unraveling Human Exome Data

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Detection of rare functional variants using group ISIS

Yue S Niu1, Ning Hao1 and Lingling An2*

Author Affiliations

1 Department of Mathematics, The University of Arizona, Tucson, AZ 85721, USA

2 Interdisciplinary Program in Statistics, The University of Arizona, Tucson, AZ 85721, USA

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BMC Proceedings 2011, 5(Suppl 9):S108  doi:10.1186/1753-6561-5-S9-S108

Published: 29 November 2011


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.