Medical Xpress October 24, 2024
The Clinical Genome Resource (ClinGen), a 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 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...
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