Conférence 2.0 : From gene to proteins: trans-omics and bioinformatics approaches to better understand human diseases

mercredi 23 septembre 2020 | Activités

Présentée par l’axe Cancer : biologie, pronostic et diagnostic du CRCHUS

Présentée par : Dr Marie A. Brunet, DVM, Ph. D.

Research Associate, Department of Biochemistry and Functional Genomics, University of Sherbrooke

Résumé | In the early 2000’s, the human genome was sequenced for the first time in full. With this data came the possibility to better understand human diseases for which the genetic background is a major risk factor. Yet, 20 years later, about 40 % of Mendelian phenotypes still have no known molecular basis. In an era of next generation sequencing and large scale proteomics, this number is unsettling. Both, fundamental and clinical, research endeavours rely on current genome annotations, the maps of the Human genome. These annotations define every element in the human genome, and thus define our hypotheses, experimental designs, data analyses, interpretations and therapeutic strategies. What if these annotations were incomplete? This past decade, an ever-increasing number of studies have reported the discovery of functional yet non-annotated open reading frames (ORFs) in the human genome. In other words, we are only seeing parts of the picture. Thousands of genomic, transcriptomic and proteomic elements are missing in current genome annotations.

This talk will present one of the recent discoveries in this field: the dual-coding nature of the FUS gene and its consequences for Amyotrophic Lateral Sclerosis, a fatal neurodegenerative disease. It will also present the bioinformatic methods (including machine learning algorithms) developed to explore the currently overlooked genomic elements, as well as future research directions.

Conférence offerte en version web



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