Prion Diseases study with WXS data on dbGaP (67 participants)

phs004012 — Identifying the Genetic Basis of Variably Protease-Sensitive Prionopathy    (VPSPr)

Design: Sequencing of cases onlyMolecular technologies: Exome sequencing and custom targeted sequencing of PRNPAims: Identify modestly penetrant, high odds ratio variants conferring risk of variably protease-sensitive prionopathy (VPSPr)Population: n=67 autopsy-confirmed VPSPr cases, United States, 1997-2021Principal findings: Association to <a href="https://www.ncbi.nlm.nih.gov/gene/5621">PRNP</a> M129V replicated, no other causal variants identifiedData available: Raw sequencing data and metadata