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Article

Will variants of uncertain significance still exist in 2030?

American journal of human genetics - 4 Jan 2024

Fowler Douglas M, Rehm Heidi L

Abstract excerpt

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...

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Identifiers

PMID: 38086381
DOI: 10.1016/j.ajhg.2023.11.005
PMCID: PMC10806733

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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