A machine learning framework for predictive interpretation of variants of uncertain significance in hereditary cancer
Nayeema Nizamuddin, Soham Biswas, Akshaykumar Zawar, Poonam Deshpande et autres
Introduction: Variant interpretation remains a major bottleneck in clinical genomics, with variants of uncertain significance (VUS) representing a critical unresolved challenge due to insufficient evidence for definitive classification. Existing in silico tools exhibit variable and often inconsistent performance complicating clinical decision-making, particularly …
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Frontiers in Systems Biology