ClinGen’s Variant Curation Interface (VCI)
Year: 2023
Type: other
Abstract: The NIH-funded Clinical Genome Resource Consortium Variant Curation Interface (ClinGen VCI) is a global, open-source variant classification platform for supporting the application of evidence criteria and classification of variants based on the ACMG/AMP sequence variant classification guidelines. To facilitate evidence-based improvements in human variant classification, the VCI is publicly available to the worldwide genomics community. The VCI is among a suite of tools developed by ClinGen, and supports an FDA-recognized human variant curation process of ClinGen Variant Curation Expert Panels (VCEPs).
Authors: Mark E Mandell, Christine G Preston, Matt W Wright, Karen P Dalton, Gloria Cheung, Bryan Wulf, Marina DiStefano, Steven M Harrison, Natasha T Strande, Justyne E Ross, Hannah Dziadzio, Clarissa J Klein, Rachel Shapira, Ingrid M Keseler, Deborah I Ritter, Neethu Shah, Kevin Riehle, Aleksandar Milosavljevic, Sharon E Plon, Teri E Klein
Institution: Stanford University
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
OpenAlex ID: W4416506655