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Titre de la Présentation :
Strategies for capturing rare and de novo variants in human disease
Date / Heure / Emplacement:
Jeudi, 14 Octobre 2010 – 16:00
Salle S1-151 de l’IRIC
Affiliation :
Chu Ste-Justine
URL
Ferran Casals
Abstract :
Ascertaining the genetic architecture of human disease has become a primary concern within medical genetics. The development of new DNA and RNA sequencing techniques now allows us to interrogate genomes at much greater depth. We present different approaches to use these data to discern/examine the etiology of complex disease and rare diseases. First, through deep-resequencing of coding regions in human genomes coupled with population genetics and statistical methods, we demonstrate that rare and de novo variants are involved in autism and schizophrenia. Second, we show how we are applying next generation sequencing of human exomes to study the origin of rare immunodeficiencies. These methods allow us to efficiently explore the large amount of data that are now easily available for the important variants causing disease.