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Human Genetics|February 11, 2025
Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancersYile Chen, Kyoungyeul Lee, Junwoo Woo, et al.
Research Square|July 16, 2024
Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancersYile Chen, Kyoungyeul Lee, Junwoo Woo, et al.
Human Mutation|June 27, 2019
Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancerAlin Voskanian, Panagiotis Katsonis, Olivier Lichtarge, et al.
Human Genetics|January 9, 2025
CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)Maria Cristina Aspromonte, Alessio Del Conte, Shaowen Zhu, et al.
Research Square|August 14, 2023
CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs)Maria Cristina Aspromonte, Alessio Del Conte, Shaowen Zhu, et al.
Human Mutation|July 12, 2019
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variantsMelissa S Cline, Giulia Babbi, Sandra Bonache, et al.
Human Mutation|July 26, 2019
Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016Wyatt T Clark, Laura Kasak, Constantina Bakolitsa, et al.
Biorxiv : the Preprint Server for Biology|June 19, 2024
Critical assessment of missense variant effect predictors on disease-relevant variant dataRuchir Rastogi, Ryan Chung, Sindy Li, et al.
Human Genetics|March 21, 2025
Critical assessment of missense variant effect predictors on disease-relevant variant dataRuchir Rastogi, Ryan Chung, Sindy Li, et al.
Genome Medicine|December 20, 2017
Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed frameworkGustavo Glusman, Peter W Rose, Andreas Prlić, et al.
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