This study (UAB IRB study title: Evaluation of Genomic Variants in Patients with Neurologic Diseases) is to evaluate patients with early onset and/or atypical neurodegenerative diseases that are suspected to have a genetic component using whole genome sequencing. In addition, relatives of probands are also sequenced when available. When a diagnostic genetic variant is identified, the result is validated with clinical sanger and the result is returned to the patient. Patients for which a diagnostic variant is not identified are available for analysis in larger case-control studies if consent is given to do so.
This second set of samples were sequenced using NovaSeq.