DeepSVP: Integration of genotype and phenotype for structural variant prioritization using deep learning
Azza Althagafi, Lamia Alsubaie, Nagarajan Kathiresan, Katsuhiko Mineta, Taghrid Aloraini, Fuad Al Mutairi, Majid Alfadhel, Takashi Gojobori, Ahmed A. Alfares, Robert Hoehndorf
DeepSVP prioritizes pathogenic structural variants by integrating genotype and phenotype data using deep learning, improving benchmark performance and identifying novel variants in consanguineous families.
Bioinformatics · Dec 21, 2021Peer-reviewedBioinformatics