Could inbred cases identified in GWAS data succeed in detecting rare recessive variants where affected sib-pairs have failed?

doi:10.1159/000346790

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Article

Could inbred cases identified in GWAS data succeed in detecting rare recessive variants where affected sib-pairs have failed?

Human heredity - 1 Jan 2012

Génin Emmanuelle, Sahbatou Mourad, Gazal Steven, Babron Marie-Claude, Perdry Hervé, Leutenegger Anne-Louise

Abstract excerpt

To detect fully penetrant rare recessive variants that could constitute Mendelian subentities of complex diseases, we propose a novel strategy, the HBD-GWAS strategy, which can be applied to genome-wide association study (GWAS) data. This strategy first involves the identification of inbred indiv...

Topics

Consanguinity
Genes, Recessive
Genetic Predisposition to Disease
Genetic Variation
Genome-Wide Association Study
Humans
Lod Score
Models, Genetic
Siblings

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