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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.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.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.Nature|August 29, 2014
Comparative analysis of the transcriptome across distant speciesMark B Gerstein, Joel Rozowsky, Koon-Kiu Yan, et al.Nature Methods|January 29, 2013
A large-scale evaluation of computational protein function predictionPredrag Radivojac, Wyatt T Clark, Tal Ronnen Oron, et al.Science (New York, N.Y.)|December 24, 2010
Identification of functional elements and regulatory circuits by Drosophila modENCODE, Sushmita Roy, Jason Ernst, et al.Human Mutation|March 24, 2009
Planning the human variome project: the Spain reportJim Kaput, Richard G H Cotton, Lauren Hardman, et al.Genome Biology|September 9, 2016
An expanded evaluation of protein function prediction methods shows an improvement in accuracyYuxiang Jiang, Tal Ronnen Oron, Wyatt T Clark, et al.Pageof 18