Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three-Generation Family Using Short-Read Whole-Genome Sequencing Data.

Haloom RafehiDavid J SzmulewiczKate PopeMathew WallisJohn ChristodoulouSusan M WhiteMartin B DelatyckiPaul J LockhartMelanie Bahlo

Published in: Movement disorders : official journal of the Movement Disorder Society (2020)

The diagnosis of rare ataxias caused by REs is highly feasible and cost-effective with WGS. We propose that WGS could potentially be implemented as the frontline, cost-effective methodology for the molecular testing of individuals with a clinical diagnosis of ataxia. © 2020 International Parkinson and Movement Disorder Society.

Keyphrases

early onset
electronic health record
machine learning
big data
sensitive detection