Séminaire de l’unité de médecine de précision

Dr Laurent Francioli (Massachusetts General Hospital, MA / Broad Institute, Cambridge MA).

Auditoire Jequier-Doge (CHUV BL08), 10h30

“Large-scale genomics for clinical and research genome interpretation”

To make sense of the genetic changes in a person’s genome – for instance, to determine which of them is responsible for a severe disease – we need to be able to compare that person’s sequence against the genomes of thousands of other individuals. However, getting access to very large collections of human genomes is challenging, and extracting useful information from such enormous data sets requires substantial computational resources and bioinformatics knowledge. In this talk I will describe the development of the Genome Aggregation Database (gnomAD), which encompasses variants derived from over 123,000 exomes and 15,000 whole genomes of unrelated individuals of diverse ancestries. This resource is accessible freely and without restrictions on a website (http://gnomad.broadinstitute.org) that is used worldwide by clinicians, genomics researchers and clinical labs, with over twelve million page views to date. I will describe how this resource was created and the tools that were engineered in order to robustly identify genetic variants from more than two petabytes of raw sequencing data. Finally, I will discuss how we can leverage these data to guide the interpretation of individual genomes in the context of rare diseases.