University of North Carolina at Chapel Hill
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“Skeletons, mutants and ontologies: what can we learn from linking phenotypes and genetics on a large scale?”
Thursday March 29, 2018
2:00 PM
RRI 101
Abstract: In contrast to the plethora of computational tools for comparative genomics, there are relatively few for the comparison of phenotype polymorphism and divergence. Yet, the systematics literature is replete with descriptions of phenotype differences among fossil and living organisms. For the past decade, the Phenoscape project has been exploring ways to compute over this kind of descriptive phenotype information by leveraging the ontologies developed within the model organism community. Here, I describe lessons from applying these semantic technologies to test cases in vertebrate skeletal evolution, with a focus on the application of identifying highly diverged, but statistically similar phenotypes. One key question is how well candidate genes obtained using this approach for major events in phenotype evolution, such as the fin-to-limb transition in tetrapods, agree with, conflict with, or complement, candidate genes from literature. Can semantic reasoning over phenotypes augment the expert knowledge of biological specialists?
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