Article
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
Journal of neurology, neurosurgery, and psychiatry - 1 Nov 2021
Grunseich Christopher, Sarkar Nathan, Lu Joyce, Owen Mallory, Schindler Alice, Calabresi Peter A, Sumner Charlotte J, Roda Ricardo H, Chaudhry Vinay, Lloyd Thomas E, Crawford Thomas O, Subramony S H, Oh Shin J, Richardson Perry, Tanji Kurenai, Kwan Justin Y, Fischbeck Kenneth H, Mankodi Ami
Abstract excerpt
BACKGROUND: We used a multimodal approach including detailed phenotyping, whole exome sequencing (WES) and candidate gene filters to diagnose rare neurological diseases in individuals referred by tertiary neurology centres. METHODS: WES was performed on 66 individuals with neurogenetic diseases using candidate gene filters and stringent algorithms for assessing sequence variants. Pathogenic or likely pathogenic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.