The Clinical Genome Resource (ClinGen), a National Institutes of Health (NIH)-funded resource that works to define the clinical relevance of genes and variants, has published data on more than 2,700 genes curated for relevance to genetic diseases, including cancer, cardiovascular disease and neurodevelopmental disorders. A new publication in the journal Genetics in Medicine, an official journal of the American College of Medical Genetics and Genomics (ACMG), describes the methods of genomic curation and the development of software and infrastructure needed to support the ClinGen global consortium capable of large-scale evidence-based curation.
The ClinGen consortium, first established in 2013 by the National Human Genome Research Institute, now consists of more than 2,500 expert members representing 69 countries and territories. These experts form more than 100 disease-specific panels that work to identify which genes are validly implicated in disease, which variants in those genes are disease-causing and when medical actions are indicated. The goal of the consortium is to standardize assessment and curation of genomic information for use in medical practice and research.
The results of these efforts are available to the public at http://www.clinicalgenome.org, all curated variants are also shared in the ClinVar database and ClinGen Evidence Repository, and all curated genes are shared with the GenCC database. As described in the paper, as of January 2024 ClinGen experts have identified and validated 2,420 gene-disease relationships, 1,557 genes for dosage sensitivity and actionability assessments for 447 gene-condition pairs across the pediatric and adult settings. Additionally, researchers have classified 5,161 unique pathogenic variants, and these numbers continue to grow.
Original Paper:
https://www.gimjournal.org/article/S1098-3600(24)00162-X/abstract
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