Associate Director, Genomic Science Scientific Innovation & Scalable Solutions Gene | Disease | Variant Interpretation
Such important work and the foundation for accurate variant classification.
A challenge in evaluating the validity of monogenic gene-disease relationships is determining the appropriate disease entity to curate. Once established, ClinGen groups often find that the name of the disease entity requires updating to reflect the evolving information and understanding of the disease. With this in mind, the ClinGen Disease Naming Advisory Committee has developed and implemented guidance for the use of dyadic nomenclature for monogenic diseases. This ongoing collaboration between ClinGen Resource, The Monarch Initiative Disease Ontology (Mondo) and Online Mendelian Inheritance in Man (OMIM) has published a perspective in The American Journal of Human Genetics by Cell Press about dyadic nomenclature for monogenic diseases with considerations for nomenclature changes and example scenarios. The ultimate goal of implementing this guidance is to support precision medicine to best serve those diagnosing and being diagnosed with monogenic disorders. Read “Implementation of a dyadic nomenclature for monogenic diseases” here → https://lnkd.in/gCAv8tfD
