Detection of rare functional variants using group ISIS

BMC Proceedings

Proceedings

Yue S Niu¹  Ning Hao¹  Lingling An² 

[1] Department of Mathematics, The University of Arizona, 85721, Tucson, AZ, USA;Interdisciplinary Program in Statistics, The University of Arizona, 85721, Tucson, AZ, USA;

关键词: Bayesian Information Criterion;    Group Selection;    Genetic Analysis Workshop;    Smoothly Clip Absolute Deviation;    GAW17 Data;   

DOI  :  10.1186/1753-6561-5-S9-S108

来源: Springer

【 摘 要 】

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.

【 授权许可】

Unknown   
© Niu et al; licensee BioMed Central Ltd. 2011. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.