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Giulia Babbi

Showing results (31-40 of 44) with videos related to

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Human Genetics|August 7, 2024
Assessing predictions on fitness effects of missense variants in HMBS in CAGI6Jing Zhang, Lisa Kinch, Panagiotis Katsonis, et al.
Human Mutation|July 20, 2019
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseasesLaura Kasak, Jesse M Hunter, Rupa Udani, 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.
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 Genetics|December 23, 2024
Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challengesPaola Turina, Giuditta Dal Cortivo, Carlos A Enriquez Sandoval, 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.
Human Genetics|February 20, 2025
Assessing the predicted impact of single amino acid substitutions in MAPK proteins for CAGI6 challengesPaola Turina, Maria Petrosino, Carlos A Enriquez Sandoval, 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.
Pageof 5

Showing results (31-40 of 44) with videos related to

Sort By:
Pageof 5
Human Genetics|August 7, 2024
Assessing predictions on fitness effects of missense variants in HMBS in CAGI6Jing Zhang, Lisa Kinch, Panagiotis Katsonis, et al.
Human Mutation|July 20, 2019
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseasesLaura Kasak, Jesse M Hunter, Rupa Udani, 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.
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 Genetics|December 23, 2024
Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challengesPaola Turina, Giuditta Dal Cortivo, Carlos A Enriquez Sandoval, 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.
Human Genetics|February 20, 2025
Assessing the predicted impact of single amino acid substitutions in MAPK proteins for CAGI6 challengesPaola Turina, Maria Petrosino, Carlos A Enriquez Sandoval, 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.
Pageof 5