Article
Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing.
Current neurology and neuroscience reports - 1 Sept 2015
Warman Chardon Jodi, Beaulieu Chandree, Hartley Taila, Boycott Kym M, Dyment David A
Abstract excerpt
Neurological disorders secondary to single gene mutations are an extremely heterogeneous group of diseases, individually rare, and often associated with progressive and severe disability. Given the degree of both clinical and genetic heterogeneity, next-generation sequencing (NGS) has become an important diagnostic tool. Multi-gene panel testing based on NGS is now prominently used, while whole-exome sequencing...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.