Limna - Lausanne Integrative Metabolism Nutrition Alliance


Friday 27th January 2017
12h15 - Department of Physiology - Bugnon 7, 1005 Lausanne - Seminar room , 6th floor

Genetic dysregulation: from causative variants to cellular phenotypes


Dr Frederico Santoni  

Department of Genetic Medicine and Development, University of Geneva

The dysregulation of cellular processes may be the outcome of inherited or acquired perturbations of the genetic code at various scales. Deleterious single nucleotide variants, short insertion or deletions in protein coding genes or regulatory modules, focal amplification of genomic regions and chromosomal rearrangements often results in macroscopic disease phenotypes. As computational biologist, my interests focus on the conception and application of computational tools and statistical models to explore all aspects of genetic dysregulation including the conception of novel algorithms for the identification of causative variants in familial, de novo or somatic disease, the identification of driver variants and novel oncogenic mechanisms in cancer, and the analysis of transcriptome data in aneuploid cells for the discovery of novel cellular phenotypes.

 Host: Prof. Nelly Pitteloud