Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes
Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes - PubMed
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…
Jean-Loup Méreaux
