Article
Contribution of model organism phenotypes to the computational identification of human disease genes.
Disease models & mechanisms - 1 Jul 2022
Alghamdi Sarah M, Schofield Paul N, Hoehndorf Robert
Abstract excerpt
Computing phenotypic similarity helps identify new disease genes and diagnose rare diseases. Genotype-phenotype data from orthologous genes in model organisms can compensate for lack of human data and increase genome coverage. In the past decade, cross-species phenotype comparisons have proven valuble, and several ontologies have been developed for this purpose. The relative contribution of different model...
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