Genetic & Genomic MedicinemedRxivPreprint
A variant prioritization tool leveraging multiple instance learning for rare Mendelian disease genomic testing
Ho Heon Kim, Ju Yeop Baek, Heonjong Han…·Kyoungyeul Lee
This paper introduces a deep learning model using multiple instance learning and learning to rank to prioritize variants in rare Mendelian disease genomic testing, achieving high accuracy in identifying disease-causing variants.
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