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This article is part of the supplement: Genetic Analysis Workshop 17: Unraveling Human Exome Data

Open Access Proceedings

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

Xue Zhang1, Hua He1, Lili Ding1, Tesfaye M Baye23, Brad G Kurowski34 and Lisa J Martin135*

Author Affiliations

1 Divisions of Biostatistics and Epidemiology, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA

2 Asthma Research, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA

3 Department of Pediatrics, University of Cincinnati School of Medicine, 231 Albert Sabin Way, Cincinnati, OH 45267, USA

4 Physical Medicine and Rehabilitation, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA

5 Human Genetics, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, Ohio 45229, USA

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BMC Proceedings 2011, 5(Suppl 9):S36  doi:10.1186/1753-6561-5-S9-S36

Published: 29 November 2011

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.