title: 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.
authors.affiliation: Divisions of Biostatistics and Epidemiology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA. Lisa.Martin@cchmc.org.
authors.forename: Xue
authors.initials: X
authors.lastname: Zhang
authors.forename: Hua
authors.initials: H
authors.lastname: He
authors.forename: Lili
authors.initials: L
authors.lastname: Ding
authors.forename: Tesfaye M
authors.initials: TM
authors.lastname: Baye
authors.forename: Brad G
authors.initials: BG
authors.lastname: Kurowski
authors.forename: Lisa J
authors.initials: LJ
authors.lastname: Martin