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

ABSTRACT: 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.

SUBMITTER: Zhang X

PROVIDER: S-EPMC3287872 | biostudies-other | 2011 Nov

REPOSITORIES: biostudies-other

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

Zhang Xue X He Hua H Ding Lili L Baye Tesfaye M TM Kurowski Brad G BG Martin Lisa J LJ

BMC proceedings 20111129

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 tha ...[more]

PMID: 22373077

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