Genetics | Oncology Real-world evaluation of deep learning algorithms to classify functional pathogenic germline variants. April 18, 2024
Bioinformatics | Genetics A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction. September 25, 2023
Bioinformatics | Genetics Cross-protein transfer learning substantially improves disease variant prediction. August 7, 2023
Genetics | Oncology Gene-specific machine learning for pathogenicity prediction of rare BRCA1 and BRCA2 missense variants. June 28, 2023
Bioinformatics | Clinical Genetics | Genetics The landscape of tolerated genetic variation in humans and primates. May 19, 2023
Bioinformatics | Genetics | Proteomics High-throughput deep learning variant effect prediction with Sequence UNET. May 10, 2023
Bioinformatics | Genetics | Molecular Biology SHINE: protein language model-based pathogenicity prediction for short inframe insertion and deletion variants. December 28, 2022
Bioinformatics | Genetics MetaRNN: differentiating rare pathogenic and rare benign missense SNVs and InDels using deep learning. October 11, 2022
Bioinformatics | Infectious Diseases | Microbiology Detecting DNA of novel fungal pathogens using ResNets and a curated fungi-hosts data collection. September 20, 2022
Cardiology | Genetics MVP predicts the pathogenicity of missense variants by deep learning. January 22, 2021
Bioinformatics | Genomics | Medical Genetics DeepPVP: phenotype-based prioritization of causative variants using deep learning. March 4, 2019