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Article

Accuracy of renovo predictions on variants reclassified over time.

Journal of translational medicine - 31 Jul 2024

Bonetti Emanuele, Tini Giulia, Mazzarella Luca

Abstract excerpt

BACKGROUND: Interpreting the clinical consequences of genetic variants is the central problem in modern clinical genomics, for both hereditary diseases and oncology. However, clinical validation lags behind the pace of discovery, leading to distressing uncertainty for patients, physicians and researchers. This "interpretation gap" changes over time as evidence accumulates, and variants initially deemed of...

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Identifiers

PMID: 39085881
DOI: 10.1186/s12967-024-05508-w
PMCID: PMC11293099

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BRCA1
FANCM
NOTCH1
POLE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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