A variant prioritization tool leveraging multiple instance learning for rare Mendelian disease genomic testing
Ho Heon Kim, Ju Yeop Baek, Heonjong Han, Won Chan Jeong, Dongwook Kim, Kisang Kwon, Yongjun Song, Hane Lee, Go Hun Seo, Jungsul Lee, 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.
medRxiv · Apr 18, 2024 · PreprintGenetic & Genomic Medicine