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Keywords: Mendelian disorders
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Journal Articles
Computational identification of disease models through cross-species phenotype comparison
Open AccessIn collection:
Rare Disease Translational Research
Pilar Cacheiro, Diego Pava, Helen Parkinson, Maya VanZanten, Robert Wilson, Osman Gunes, the International Mouse Phenotyping Consortium, Damian Smedley
Journal:
Disease Models & Mechanisms
Dis Model Mech (2024) 17 (6): dmm050604.
Published: 1 July 2024
... to mimic, at least partially, the human ortholog disease phenotypes as computed by the PhenoDigm algorithm. We found the number of phenotypic abnormalities in the mouse and the corresponding Mendelian disorder, the pleiotropy and severity of the disease, and the viability and zygosity status of the mouse...
Includes: Supplementary data
