A novel method to detect rare variants using both family and unrelated case-control data

BMC Proceedings

Proceedings

Tao Feng¹  Robert C Elston¹  Xiaofeng Zhu¹ 

[1] Department of Epidemiology and Biostatistics, School of Medicine, Case Western Reserve University, Wolstein Research Building, 2103 Cornell Road, 44106, Cleveland, OH, USA;

关键词: Minor Allele Frequency;    Rare Variant;    Family Data;    Genetic Analysis Workshop;    Genetic Score;   

DOI  :  10.1186/1753-6561-5-S9-S80

来源: Springer

【 摘 要 】

To detect rare variants associated with a phenotype, we develop a novel statistical method that can use both family and unrelated case-control data. Unlike the currently existing methods, we first use family data to calculate weights to be given to rare variants, differentiating between concordantly affected and discordant sib pairs. These weights are then used in an association test applied to the unrelated case-control data. We applied the proposed method to the simulated sequencing data in Genetic Analysis Workshop 17 and identified two genes associated with the disease.

【 授权许可】

Unknown   
© Feng 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.