Family-based tests applied to extended pedigrees identify rare variants related to hypertension

BMC Proceedings

Proceedings

Mengyuan Xu¹  Haide Qin¹  Wei Guo¹  Yin Y Shugart¹  Harold Z Wang¹ 

[1] Division of Intramural Research Program, National Institute of Mental Health, National Institutes of Health, Building 35, Room 3A 1000, 35 Convent Drive, 20892, Bethesda, MD, USA;

关键词: Rare Variant;    Causal Variant;    Genetic Analysis Workshop;    Whole Genome Sequencing Data;    GAW18 Data;   

DOI  :  10.1186/1753-6561-8-S1-S31

来源: Springer

【 摘 要 】

The application of family-based tests to whole-genome sequenced data provides a new window on the role of rare variant alleles in the etiology of disease. By applying family-based tests to these data, we can now identify rare variants associated with disease. Approaches for common variants, by contrast, require large sample sizes for power, and are powerless when faced with rare variants. When we tested Yip et al's 2011 family-based association tests for rare variants on pedigrees from the Genetic Analysis Workshop 18, we found that weighted collapsing methods generally have more power than unweighted methods, but are more prone to type I errors. We then evaluated a sliding window modification of the weighted family-based association tests for rare variants method. Although this modification inflates the rate of false positives, it significantly increases the power of family-based association tests for rare variants to identify causal rare variants.

【 授权许可】

Unknown   
© Xu et al.; licensee BioMed Central Ltd. 2014. 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. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.