UAB/HudsonAlpha Families with Neurodegenerative Diseases

PIs: Richard M. Myers (HudsonAlpha) and Erik D. Roberson (UAB)

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.

The results published here are in whole or part based upon data generated by the HudsonAlpha Institute for Biotechnology and the University of Alabama at Birmingham and supported by the Daniel Foundation of Alabama and the HudsonAlpha Memory & Mobility Fund.

Manifest spreadsheet tabs:

- SampleManifest: Sample descriptors (technical, phenotype, consent, and variant information by sample) Note columns D-H on this tab form a standard .fam or .ped file.

- FileManifest: File information. BAMs and FASTQs for each SL number (SLXXXXXX), an internal sequencing lab ID corresponding to each sample, and also provided on the SampleManifest tab.

- Sanger: Information on confirmed sanger results, and which samples were sanger sequenced. All information returned to patients was validated by clinical sanger sequencing prior to return.