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American Journal of Human Genetics|September 27, 2016
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense VariantsNilah M Ioannidis, Joseph H Rothstein, Vikas Pejaver, et al.
Nucleic Acids Research|December 8, 2025
The IGVF catalog-from genetic variation to functionDaofeng Li, Shane Liu, Pedro R Assis, et al.
Human Mutation|June 22, 2017
Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challengesRoxana Daneshjou, Yanran Wang, Yana Bromberg, et al.
Human Genetics|March 7, 2025
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase AShantanu Jain, Marena Trinidad, Thanh Binh Nguyen, et al.
Biorxiv : the Preprint Server for Biology|May 27, 2024
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase AShantanu Jain, Marena Trinidad, Thanh Binh Nguyen, et al.
Biorxiv : the Preprint Server for Biology|February 23, 2026
A scalable approach to resolving variants of uncertain significanceMalvika Tejura, Yile Chen, Abbye E McEwen, et al.
Human Genomics|April 29, 2024
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes projectSarah L Stenton, Melanie C O'Leary, Gabrielle Lemire, et al.
Medrxiv : the Preprint Server for Health Sciences|August 14, 2023
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes ProjectSarah L Stenton, Melanie O'Leary, Gabrielle Lemire, et al.
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