UNIL MSc course: "Genes: from sequence to function 2009"

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  • Concept of the course: The lectures give an introduction to how knowledge on genes affecting phenotypes is commonly generated. After a general introduction we survey two common screening approaches that can help identifying genetic variants that are potentially causally related to a particular phenotype under investigation. Linkages studies use family pedigrees in order to identify genetic regions that segregate in family members affected by a particular trait. Genome Wide Association Studies (GWAS) use profiles of many genetic variants for individuals in a large population to reveal those that are associated with the phenotypes measured for these individuals. These approaches screen for interesting regions in the DNA, which may or may not contain genes (in the sense of containing transcribed DNA). In contrast, the analysis of Expression studies also uses high-throughput data, but here the observables are at the level of the transcripts. The different methods may individually lead to candidate genes, but Integrative analysis of the vast amounts of data generated at different levels may also be pursued to refine them and learn more about systems properties of the regulatory networks. Whatever the approach leading to a list of candidates a Target Prioritization that makes use of the exiting knowledge accumulated on public repositories is always useful, before embarking on focused Functional studies.