Genetic & Genomic MedicinemedRxivPreprint
Real-world evaluation of deep learning algorithms to classify functional pathogenic germline variants
Ryan Dz-Wei Chow, Ravi Bharat Parikh, Katherine L. Nathanson
This study evaluates deep learning models for classifying pathogenic germline variants in hereditary breast cancer using UK Biobank data, finding limited clinical utility for variants of uncertain significance.
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