Article
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.
Human mutation - 1 Dec 2016
Marelli Cecilia, Guissart Claire, Hubsch Cecile, Renaud Mathilde, Villemin Jean-Philippe, Larrieu Lise, Charles Perrine, Ayrignac Xavier, Sacconi Sabrina, Collignon Patrick, Cuntz-Shadfar Danielle, Perrin Laurine, Benarrosh Anelia, Degardin Adrian, Lagha-Boukbiza Ouhaïd, Mutez Eugenie, Carlander Bertrand, Morales Raul Juntas, Gonzalez Victoria, Carra-Dalliere Clarisse, Azakri Souhayla, Mignard Claude, Ollagnon Elisabeth, Pageot Nicolas, Chretien Dominique, Geny Christian, Azulay Jean-Philippe, Tranchant Christine, Claustres Mireille, Labauge Pierre, Anheim Mathieu, Goizet Cyril, Calvas Patrick, Koenig Michel
Abstract excerpt
Next-generation sequencing (NGS) has an established diagnostic value for inherited ataxia. However, the need of a rigorous process of analysis and validation remains challenging. Moreover, copy number variations (CNV) or dynamic expansions of repeated sequence are classically considered not adequately detected by exome sequencing technique. We applied a strategy of mini-exome coupled to read-depth based CNV...
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