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Human Mutation|February 18, 2022
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseasesSteven Laurie, Davide Piscia, Leslie Matalonga, 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.Frontiers in Genetics|August 17, 2019
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva InitiativeChristoffer Nellåker, Fowzan S Alkuraya, Gareth Baynam, et al.Advances in Experimental Medicine and Biology|December 8, 2017
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health FrameworkGareth Baynam, Faye Bowman, Karla Lister, et al.Cancer Research|July 31, 2024
A Pan-Cancer Patient-Derived Xenograft Histology Image Repository with Genomic and Pathologic Annotations Enables Deep Learning AnalysisBrian S White, Xing Yi Woo, Soner Koc, et al.Nucleic Acids Research|December 1, 2016
The Human Phenotype Ontology in 2017Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, et al.Journal of the American Medical Informatics Association : JAMIA|August 18, 2020
The National COVID Cohort Collaborative (N3C): Rationale, design, infrastructure, and deploymentMelissa A Haendel, Christopher G Chute, Tellen D Bennett, et al.Nucleic Acids Research|November 27, 2018
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resourcesSebastian Köhler, Leigh Carmody, Nicole Vasilevsky, et al.Medrxiv : the Preprint Server for Health Sciences|January 10, 2024
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project dataValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.Pageof 132