On November 27th, 2017, the CRCHUM Conferences invites Bernard Courtieu, Chairman and Chief Executive Officer at IntegraGen. He will discuss, recent progress in bio-informatics & genomic interpretation software tools.
Large scale sequencing (whole exome, whole genome, transcriptome) has been widely used for research purposes since 2009 and the availability of massively parallel sequencing tools. However, these large scale sequencing tools have not yet reached routine clinical practice, even in areas where genomics are already standard of care like oncology. While the first barrier to WES/WGS & transriptome was cost, it appears that the next roadblock is mostly linked to the inability of clinicians, even the most specialized medical biologist, to organize, digest and report the amount of data generated by a whole molecular profile of patients. Indeed, a whole exome consists in c. 5 go of raw data, and the formatted data, after applying bio-informatic pipeline and various variant annotation tools, stll 50 to 100 Mo; which makes it impossible for any human being to deal with within the few hours that can be devoted (at best) to a single patient.
Recent progress in bio-informatics & genomic interpretation software tools can be the trigger for translating large scale genomics (and its associated benefits over targeted panels of genes) into clinical practice and within a timeframe compatible with clinical decisions, possibly opening an era of large scale sequencing routine clinical utilization, and the positioning, design, specificities and QC are now the most critical aspects of this evolution.
This conference will be presented in English.
Monday, November 27th, 2017, at 1 pm.
Auditorium of the CRCHUM, R05.210 and R05.220
900 Saint-Denis Street, 5th floor
Montreal (Quebec) H2X 0A9
Bernard Courtieu, Ph.D., M.B.A.
Chairman and Chief Executive Officer
À propos des Conférences du CRCHUM
Les Conférences du CRCHUM sont des réunions hebdomadaires gratuites, animées par des conférenciers scientifiques de renom, issus de différentes disciplines. Ces conférences sont accréditées par le Collège royal des médecins et chirurgiens du Canada comme activité de développement professionnel continu. Les Conférences du CRCHUM sont rendues possibles grâce au soutien financier de nos partenaires : AstraZeneca, Biron, Charles River, GSK Canada, Lilly, Médicaments novateurs Canada, Merck, Pfizer, Québecor, Roche et Servier.