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

AbstractVon 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 ofVHL 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 signif icance within theVHL gene. Through community curation, we crowdsourced the laborious task of variant annotation by modifying the ClinGen Community Curation (C3)-developed Baseline Annotation protocol and annotating all publishedVHL cases with the reported genotype –phenotype information in Hypothes.is, an open-access web annotation tool. This process, incorporated into the ClinGen VCEP’s workflow, will aid in their curation efforts. To facilitate the curation at all levels of genetics expertise, our team developed a 4-day biocuration training protocol and resource guide. To date, 91.3% of annotations have been completed by undergraduate and high-school students without formal academic genetics specialization. Here, we present our VHL-specific annotation protocol utilizing Hypothes.is, which offers a stand...
Source: Database : The Journal of Biological Databases and Curation - Category: Databases & Libraries Source Type: research