NIH to Establish Expert Panels for Curation of Disease-Linked Genes, Variants

The National Institutes of Health said that it intends to establish new expert panels tasked with identifying genes and genomic variants linked to high-priority disorders.

The so-called Genomic Expert Curation Panels will use the National Human Genome Research Institute’s Clinical Genomics Resource (ClinGen), as well as the National Center for Biotechnology Information’s ClinVar database of clinical variation, to determine the strength of evidence supporting the clinical significance of the selected genes and variants, the NIH said.

ClinGen has already established a number of expert panels focused on evaluating the clinical validity of gene-disease relationships and the pathogenicity of specific gene variants across a number of disease areas including hereditary cancers, neurodevelopmental disorders, and diabetes.

Under this new funding opportunity, the NIH will support the establishment of new expert panels that will identify clinical domains of high priority to participating institutes and centers, select candidate genes that impact clinical practice in these high-priority areas, and analyze all relevant variant data using ClinGen procedures, interfaces, and tools to make determinations of clinical significance.

Source: https://www.genomeweb.com/genetic-research/nih-establish-expert-panels-curation-disease-linked-genes-variants