Article
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Translational psychiatry - 24 Feb 2020
Husson Thomas, Lecoquierre François, Cassinari Kevin, Charbonnier Camille, Quenez Olivier, Goldenberg Alice, Guerrot Anne-Marie, Richard Anne-Claire, Drouin-Garraud Valérie, Brehin Anne-Claire, Soleimani Maryam, Taton Romain, Rotharmel Maud, Rosier Antoine, Chambon Pascal, Le Meur Nathalie, Joly-Helas Géraldine, Saugier-Veber Pascale, Boland Anne, Deleuze Jean-François, Olaso Robert, Frebourg Thierry, Nicolas Gael, Guillin Olivier, Campion Dominique
Abstract excerpt
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a strong genetic component whose knowledge evolves quickly. Next-generation sequencing is the only effective technology to deal with the high genetic heterogeneity of ASD in a clinical setting. However, rigorous criteria to classify rare genetic variants conferring ASD susceptibility are currently lacking. We have performed whole-exome...
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