O60: A semi-quantitative framework curating mechanism of pathogenicity in monogenic conditions: A consensus effort of the Gene Curation Coalition

Genetics in Medicine Open 2026 Open access

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Authors: Fowzan Sami Alkuraya, Joanna S. Amberger, Jonathan S. Berg, Elspeth A. Bruford, Alicia B. Byrne, Elena Cibrián–Uhalte, Alison J. Coffey, Stephanie P. DiTroia, Helen Firth, Ada Hamosh, Sarah E. Hunt, Teri E. Klein
+15 more Mickaël De Carvalho, Sateesh Maddirevula, Audrey O'Neill, Ana Rath, Angharad M. Roberts, Kelly Radtke, Erin Rooney Riggs, Justyne E. Ross, Julie Taylor, Katrin Sangkuhl, Zornitza Stark, J Ware, Bess Wayburn, Heidi L. Rehm, Marina T. DiStefano
DOI: 10.1016/j.gimo.2026.104351
Cited by: 0

Abstract

The Gene Curation Coalition (GenCC) was formed in 2017 to bring together international resources reporting the validity of gene-disease relationships. It comprises organizations that currently provide online gene-level resources (ClinGen, Genomics England PanelApp, HGNC, OMIM, Orphanet, PanelApp Australia, Gene2Phenotype), as well as diagnostic laboratories and platforms that have committed to sharing their internal curated gene-level knowledge (Ambry Genetics, Franklin, GeneDx, the GREGoR consortium, King Faisal, Illumina Inc., LabCorp, Lifera Omics, Myriad Women’s Health, Mass General Brigham Laboratory for Molecular Medicine, and Quest).

Fields of Study & Subjects

Genomics and Rare Diseases Biomedical Text Mining and Ontologies Genetic Associations and Epidemiology

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104351–104351
Publication date
1 January 2026
Language
EN