Exploitation de marqueurs évolutifs pour l'étude des relations génotype-phénotype : application aux ciliopathies

Abstract : 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.
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Yannis Alain Nevers. Exploitation de marqueurs évolutifs pour l'étude des relations génotype-phénotype : application aux ciliopathies. Bio-informatique [q-bio.QM]. Université de Strasbourg, 2018. Français. ⟨NNT : 2018STRAJ090⟩. ⟨tel-02294499⟩

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