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Leigh Carmody

Showing results (1-10 of 11) with videos related to

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Bioinformatics (Oxford, England)|March 17, 2023
An expectation-maximization framework for comprehensive prediction of isoform-specific functionsGuy Karlebach, Leigh Carmody, Jagadish Chandrabose Sundaramurthi, et al.
Cold Spring Harbor Molecular Case Studies|September 8, 2023
De novo <i>TRPM3</i> missense variant associated with neurodevelopmental delay and manifestations of cerebral palsyJagadish Chandrabose Sundaramurthi, Anita M Bagley, Hannah Blau, et al.
NAR Genomics and Bioinformatics|December 10, 2021
Supervised learning with word embeddings derived from PubMed captures latent knowledge about protein kinases and cancerVida Ravanmehr, Hannah Blau, Luca Cappelletti, et al.
Bioinformatics Advances|April 5, 2024
Node-degree aware edge sampling mitigates inflated classification performance in biomedical random walk-based graph representation learningLuca Cappelletti, Lauren Rekerle, Tommaso Fontana, et al.
Orphanet Journal of Rare Diseases|August 14, 2020
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a TreatabolomeAntonio Atalaia, Rachel Thompson, Alberto Corvo, et al.
Journal of Biomedical Semantics|October 16, 2024
Dynamic Retrieval Augmented Generation of Ontologies using Artificial Intelligence (DRAGON-AI)Sabrina Toro, Anna V Anagnostopoulos, Susan M Bello, et al.
Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
A Phenotypic Paradigm for Cerebral Palsy GeneticsAdam S Arterbery, Michael A Gargano, Anita M Bagley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 1, 2022
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)Peter Horak, Malachi Griffith, Arpad M Danos, et al.
Ebiomedicine|November 28, 2021
Characterizing Long COVID: Deep Phenotype of a Complex ConditionRachel R Deer, Madeline A Rock, Nicole Vasilevsky, et al.
Nucleic Acids Research|November 9, 2019
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across speciesKent A Shefchek, Nomi L Harris, Michael Gargano, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
Bioinformatics (Oxford, England)|March 17, 2023
An expectation-maximization framework for comprehensive prediction of isoform-specific functionsGuy Karlebach, Leigh Carmody, Jagadish Chandrabose Sundaramurthi, et al.
Cold Spring Harbor Molecular Case Studies|September 8, 2023
De novo <i>TRPM3</i> missense variant associated with neurodevelopmental delay and manifestations of cerebral palsyJagadish Chandrabose Sundaramurthi, Anita M Bagley, Hannah Blau, et al.
NAR Genomics and Bioinformatics|December 10, 2021
Supervised learning with word embeddings derived from PubMed captures latent knowledge about protein kinases and cancerVida Ravanmehr, Hannah Blau, Luca Cappelletti, et al.
Bioinformatics Advances|April 5, 2024
Node-degree aware edge sampling mitigates inflated classification performance in biomedical random walk-based graph representation learningLuca Cappelletti, Lauren Rekerle, Tommaso Fontana, et al.
Orphanet Journal of Rare Diseases|August 14, 2020
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a TreatabolomeAntonio Atalaia, Rachel Thompson, Alberto Corvo, et al.
Journal of Biomedical Semantics|October 16, 2024
Dynamic Retrieval Augmented Generation of Ontologies using Artificial Intelligence (DRAGON-AI)Sabrina Toro, Anna V Anagnostopoulos, Susan M Bello, et al.
Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
A Phenotypic Paradigm for Cerebral Palsy GeneticsAdam S Arterbery, Michael A Gargano, Anita M Bagley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 1, 2022
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)Peter Horak, Malachi Griffith, Arpad M Danos, et al.
Ebiomedicine|November 28, 2021
Characterizing Long COVID: Deep Phenotype of a Complex ConditionRachel R Deer, Madeline A Rock, Nicole Vasilevsky, et al.
Nucleic Acids Research|November 9, 2019
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across speciesKent A Shefchek, Nomi L Harris, Michael Gargano, et al.
Pageof 2