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Human Mutation
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July 20, 2019
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases
Laura Kasak, Jesse M Hunter, Rupa Udani, et al.
Human Genetics
|
August 7, 2024
Assessing predictions on fitness effects of missense variants in HMBS in CAGI6
Jing Zhang, Lisa Kinch, Panagiotis Katsonis, et al.
Biorxiv : the Preprint Server for Biology
|
June 22, 2026
Saturation Genome Editing reveals the functional impact of RAD51D <i>and</i> XRCC2 variants
Silvia Casadei, Matthew W Snyder, Ivan Woo, et al.
Human Mutation
|
July 26, 2019
Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016
Wyatt T Clark, Laura Kasak, Constantina Bakolitsa, et al.
Human Genetics
|
December 23, 2024
Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challenges
Paola Turina, Giuditta Dal Cortivo, Carlos A Enriquez Sandoval, et al.
Human Mutation
|
July 12, 2019
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants
Melissa S Cline, Giulia Babbi, Sandra Bonache, et al.
Biorxiv : the Preprint Server for Biology
|
June 19, 2024
Critical assessment of missense variant effect predictors on disease-relevant variant data
Ruchir Rastogi, Ryan Chung, Sindy Li, et al.
Human Genetics
|
March 21, 2025
Critical assessment of missense variant effect predictors on disease-relevant variant data
Ruchir Rastogi, Ryan Chung, Sindy Li, et al.
Human Mutation
|
July 14, 2019
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants
Laura Kasak, Constantina Bakolitsa, Zhiqiang Hu, et al.
Biorxiv : the Preprint Server for Biology
|
April 22, 2024
The landscape of regional missense mutational intolerance quantified from 125,748 exomes
Katherine R Chao, Lily Wang, Ruchit Panchal, et al.
Page
of 18
Search research articles
Search
Showing results (151-160 of 175) with videos related to
Sort By:
Page
of 18
Human Mutation
|
July 20, 2019
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases
Laura Kasak, Jesse M Hunter, Rupa Udani, et al.
Human Genetics
|
August 7, 2024
Assessing predictions on fitness effects of missense variants in HMBS in CAGI6
Jing Zhang, Lisa Kinch, Panagiotis Katsonis, et al.
Biorxiv : the Preprint Server for Biology
|
June 22, 2026
Saturation Genome Editing reveals the functional impact of RAD51D <i>and</i> XRCC2 variants
Silvia Casadei, Matthew W Snyder, Ivan Woo, et al.
Human Mutation
|
July 26, 2019
Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016
Wyatt T Clark, Laura Kasak, Constantina Bakolitsa, et al.
Human Genetics
|
December 23, 2024
Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challenges
Paola Turina, Giuditta Dal Cortivo, Carlos A Enriquez Sandoval, et al.
Human Mutation
|
July 12, 2019
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants
Melissa S Cline, Giulia Babbi, Sandra Bonache, et al.
Biorxiv : the Preprint Server for Biology
|
June 19, 2024
Critical assessment of missense variant effect predictors on disease-relevant variant data
Ruchir Rastogi, Ryan Chung, Sindy Li, et al.
Human Genetics
|
March 21, 2025
Critical assessment of missense variant effect predictors on disease-relevant variant data
Ruchir Rastogi, Ryan Chung, Sindy Li, et al.
Human Mutation
|
July 14, 2019
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants
Laura Kasak, Constantina Bakolitsa, Zhiqiang Hu, et al.
Biorxiv : the Preprint Server for Biology
|
April 22, 2024
The landscape of regional missense mutational intolerance quantified from 125,748 exomes
Katherine R Chao, Lily Wang, Ruchit Panchal, et al.
Page
of 18