Family- and population-based designs identify different rare causal variants

BMC Proceedings

Proceedings

Tesfaye M Baye¹  Brad G Kurowski²  Lili Ding³  Xue Zhang³  Hua He³  Lisa J Martin⁴ 

[1] Asthma Research, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Avenue, 45229, Cincinnati, OH, USA;Department of Pediatrics, University of Cincinnati School of Medicine, 231 Albert Sabin WayOH, 45267, Cincinnati, USA;Department of Pediatrics, University of Cincinnati School of Medicine, 231 Albert Sabin WayOH, 45267, Cincinnati, USA;Physical Medicine and Rehabilitation, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Avenue, 45229, Cincinnati, OH, USA;Divisions of Biostatistics and Epidemiology, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Avenue, 45229, Cincinnati, OH, USA;Divisions of Biostatistics and Epidemiology, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Avenue, 45229, Cincinnati, OH, USA;Department of Pediatrics, University of Cincinnati School of Medicine, 231 Albert Sabin WayOH, 45267, Cincinnati, USA;Human Genetics, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Avenue, 45229, Cincinnati, Ohio, USA;

关键词: Rare Variant;    Causal Variant;    Genetic Analysis Workshop;    Causal SNPs;    Quantitative Transmission Disequilibrium Test;   

DOI  :  10.1186/1753-6561-5-S9-S36

来源: Springer

【 摘 要 】

Both family- and population-based samples are used to identify genetic variants associated with phenotypes. Each strategy has demonstrated advantages, but their ability to identify rare variants and genes containing rare variants is unclear. To compare these two study designs in the identification of rare causal variants, we applied various methods to the population- and family-based data simulated by the Genetic Analysis Workshop 17 with knowledge of the simulated model. Our results suggest that different variants can be identified by different study designs. Family-based and population-based study designs can be complementary in the identification of rare causal variants and should be considered in future studies.

【 授权许可】

Unknown   
© Zhang 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.