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Bioinformatics Advances
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August 15, 2024
Current and future directions in network biology
Marinka Zitnik, Michelle M Li, Aydin Wells, et al.
Human Genetics
|
February 20, 2025
Assessing the predicted impact of single amino acid substitutions in MAPK proteins for CAGI6 challenges
Paola Turina, Maria Petrosino, Carlos A Enriquez Sandoval, et al.
American Journal of Human Genetics
|
September 27, 2016
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
Nilah M Ioannidis, Joseph H Rothstein, Vikas Pejaver, et al.
Nucleic Acids Research
|
December 8, 2025
The IGVF catalog-from genetic variation to function
Daofeng 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) challenges
Roxana Daneshjou, Yanran Wang, Yana Bromberg, et al.
Database : the Journal of Biological Databases and Curation
|
August 12, 2022
A roadmap for the functional annotation of protein families: a community perspective
Valérie de Crécy-Lagard, Rocio Amorin de Hegedus, Cecilia Arighi, et al.
Human Genetics
|
March 7, 2025
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A
Shantanu 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 A
Shantanu 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 significance
Malvika 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 project
Sarah L Stenton, Melanie C O'Leary, Gabrielle Lemire, et al.
Page
of 18
Search research articles
Search
Showing results (161-170 of 175) with videos related to
Sort By:
Page
of 18
Bioinformatics Advances
|
August 15, 2024
Current and future directions in network biology
Marinka Zitnik, Michelle M Li, Aydin Wells, et al.
Human Genetics
|
February 20, 2025
Assessing the predicted impact of single amino acid substitutions in MAPK proteins for CAGI6 challenges
Paola Turina, Maria Petrosino, Carlos A Enriquez Sandoval, et al.
American Journal of Human Genetics
|
September 27, 2016
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
Nilah M Ioannidis, Joseph H Rothstein, Vikas Pejaver, et al.
Nucleic Acids Research
|
December 8, 2025
The IGVF catalog-from genetic variation to function
Daofeng 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) challenges
Roxana Daneshjou, Yanran Wang, Yana Bromberg, et al.
Database : the Journal of Biological Databases and Curation
|
August 12, 2022
A roadmap for the functional annotation of protein families: a community perspective
Valérie de Crécy-Lagard, Rocio Amorin de Hegedus, Cecilia Arighi, et al.
Human Genetics
|
March 7, 2025
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A
Shantanu 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 A
Shantanu 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 significance
Malvika 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 project
Sarah L Stenton, Melanie C O'Leary, Gabrielle Lemire, et al.
Page
of 18