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

Autor: Salehipour D; Department of Medicine, Division of Medical Oncology, University Health Network, 620 University Ave, Toronto, ON M5G 2C1, Canada., Farncombe KM; Toronto General Hospital Research Institute, University Health Network, 200 Elizabeth St, Toronto, ON M5G 2C4, Canada., Andric V; Department of Medicine, Division of Medical Oncology, University Health Network, 620 University Ave, Toronto, ON M5G 2C1, Canada., Ansar S; Department of Medicine, Division of Medical Oncology, University Health Network, 620 University Ave, Toronto, ON M5G 2C1, Canada., Delong S; Department of Medicine, Division of Medical Oncology, University Health Network, 620 University Ave, Toronto, ON M5G 2C1, Canada., Li E; Department of Medicine, Division of Medical Oncology, University Health Network, 620 University Ave, Toronto, ON M5G 2C1, Canada., Macpherson S; Department of Medicine, Division of Medical Oncology, University Health Network, 620 University Ave, Toronto, ON M5G 2C1, Canada., Ridd S; Department of Medicine, Division of Medical Oncology, University Health Network, 620 University Ave, Toronto, ON M5G 2C1, Canada., Ritter DI; Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, 1102 Bates Ave, Houston, TX 77030, USA., Thaxton C; Department of Genetics, University of North Carolina, 120 Mason Farm Rd, Chapel Hill, Chapel Hill, NC 27514, USA., Kim RH; Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network, Sinai Health System, 620 University Ave, Toronto, ON M5G 2C1, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 555 University Ave, Toronto, ON M5G 1X8, Canada.; Ontario Institute for Cancer Research, 661 University Ave Suite 510, Toronto, ON M5G 0A3, Canada.; Department of Medicine, University of Toronto, 1 King's College Cir, Toronto, ON M5S 1A8, Canada.
Jazyk: angličtina
Zdroj: Database : the journal of biological databases and curation [Database (Oxford)] 2023 Jan 06; Vol. 2023.
DOI: 10.1093/database/baac109
Abstrakt: 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 ClinGen Community Curation (C3)-developed Baseline Annotation protocol and annotating all published VHL 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 standardized method to present case-resolution data, and our biocuration training protocol, which can be adapted for other rare disease platforms. By facilitating training for community curation of VHL disease, we increased student engagement with clinical genetics while enhancing knowledge translation in the field of hereditary cancer. Database URL: https://hypothes.is/groups/dKymJJpZ/vhl-hypothesis-annotation.
(© The Author(s) 2023. Published by Oxford University Press.)
Databáze: MEDLINE
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