Developing a disease-specific annotation protocol for VHL gene curation using Hypothes.is.

ABSTRACT: Von Hippel-Lindau (VHL) disease is a rare, autosomal dominant disorder that predisposes individuals to developing tumors in many organs. There is significant phenotypic variability and genetic variants encountered within this syndrome, posing a considerable challenge to patient care. The lack of VHL variant data sharing paired with the absence of aggregated genotype-phenotype information results in an arduous process, when characterizing genetic variants and predicting patient prognosis. To address these gaps in knowledge, the Clinical Genome Resource (ClinGen) VHL Variant Curation Expert Panel (VCEP) has been resolving a list of variants of uncertain significance within the VHL gene. Through community curation, we crowdsourced the laborious task of variant annotation by modifying the Clin

SUBMITTER: Salehipour D 

PROVIDER: S-EPMC9825735 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature