Thesis: Exploitation de marqueurs évolutifs pour l’étude des relations ténotype/phénotype. Application aux ciliopathies

PhD defense: Yannis NEVERS

Title: Exploitation de marqueurs évolutifs pour l’étude des relations ténotype/phénotype. Application aux ciliopathies

Team: CSTB

Abstact: In the omics era, the study of genotype-phenotype relations requires the integration of a wide variety of data to describe diverse aspects of biological systems. Comparative genomics provides an original perspective, that of evolution, allowing the exploitation of the wide phenotypic diversity of living species. My thesis focused on the design of evolutionary markers to describe genes according to their evolutionary history. First, I built an exhaustive orthology resource, called OrthoInspector 3.0, to extract synthetic evolutionary information from genomic data. I then developed methods to explore the markers in relation to functional or phenotypic data. These methods have been incorporated in the OrthoInspector resource, as well as in the MyGeneFriends social network and applied to the study of ciliopathies, leading to the identification of 87 new ciliary genes.

This thesis was supervised by Odile Lecompte, full professor of the university of Strasbourg.

The defense will be held in French on Friday, December 14th, at 2:00 pm in the A302 amphitheater of the Pole API building in Illkirch.

Keywords: genotype-phenotype relations, evolution, orthology, databases, ciliopathies, systems biology