Article
Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes.
Journal of medical genetics - 1 Jul 2023
Méreaux Jean-Loup, Davoine Claire-Sophie, Coutelier Marie, Guillot-Noël Léna, Castrioto Anna, Charles Perrine, Coarelli Giulia, Ewenczyk Claire, Klebe Stephan, Heinzmann Anna, Méneret Aurélie, Fauret-Amsellem Anne-Laure, de Sainte Agathe Jean-Madeleine, Brice Alexis, Durr Alexandra
Abstract excerpt
Usually, molecular diagnosis of spinocerebellar ataxia is based on a step-by-step approach with targeted sizing of four repeat expansions accounting for most dominant cases, then targeted sequencing of other genes. Nowadays, genome sequencing allows detection of most pathogenic variants in a single step. The ExpansionHunter tool can detect expansions in short-read genome sequencing data. Recent studies have shown...
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