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

被引：1
作者：
Xue Zhang
Hua He
Lili Ding
Tesfaye M Baye
Brad G Kurowski
Lisa J Martin
机构：
[1] Cincinnati Children’s Hospital Medical Center,Divisions of Biostatistics and Epidemiology
[2] Cincinnati Children’s Hospital Medical Center,Asthma Research
[3] University of Cincinnati School of Medicine,Department of Pediatrics
[4] Cincinnati Children’s Hospital Medical Center,Physical Medicine and Rehabilitation
[5] Cincinnati Children’s Hospital Medical Center,Human Genetics
来源：
BMC Proceedings | / 5卷 / Suppl 9期
关键词：
Rare Variant; Causal Variant; Genetic Analysis Workshop; Causal SNPs; Quantitative Transmission Disequilibrium Test;
D O I：
10.1186/1753-6561-5-S9-S36
中图分类号：
学科分类号：
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.
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