Article

Accuracy of RENOVO Predictions on Genetic Variants Reclassified Over Time

2024-06-20

Abstract excerpt

<title>Abstract</title> <p>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...

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Literature Corpus work: 81ccef90-df1f-5b1a-9442-fddce8db9334
DOI: 10.21203/rs.3.rs-4510190/v1

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