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 individuals among cases using the genome-wide SNP data and then focuses on these inbred affected individuals and searches...
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