jueves, 14 de diciembre de 2023
Will variants of uncertain significance still exist in 2030?
https://pubmed.ncbi.nlm.nih.gov/38086381/
From the abstract: "In 2020, the National Human Genome Research Institute (NHGRI) made ten “bold predictions,” including that “the clinical relevance of all encountered genomic variants will be readily predictable, rendering the diagnostic designation ‘variant of uncertain significance (VUS)’ obsolete.” We discuss the prospects for this prediction, arguing that many, if not most, VUS in coding regions will be resolved by 2030. We outline a confluence of recent changes making this possible. "
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