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Talk Title :
Strategies for capturing rare and de novo variants in human disease

Date / Time / Location:
Thursday October 14^th, 2010 – 4:00 pm
Room S1-151 at IRIC

Affiliation :
CHU Ste-Justine

URL
Ferran Casals

Abstract :
Ascertaining the genetic architecture of human disease has become a primary concern within medical genetics. The development of new DNA and RNA sequencing techniques now allows us to interrogate genomes at much greater depth. We present different approaches to use these data to discern/examine the etiology of complex disease and rare diseases. First, through deep-resequencing of coding regions in human genomes coupled with population genetics and statistical methods, we demonstrate that rare and de novo variants are involved in autism and schizophrenia. Second, we show how we are applying next generation sequencing of human exomes to study the origin of rare immunodeficiencies. These methods allow us to efficiently explore the large amount of data that are now easily available for the important variants causing disease.

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Talk Title :
Genomic approaches for defining heterogeneity in cancer cells

Date / Time / Location:
Thursday September 23^rd, 2010 – 5:00 pm
Due to unforeseen events, this meeting has been CANCELLED

Affiliation :
Scripps Institute

URL
Samuel Levy

Abstract :
The precise definition of somatic mutations in the genomes of cancer cells requires both the acquisition of accurate DNA sequence and specific interpretation of mutational events from resulting analytic approaches. We have applied both of these methods to address two lines of enquiry. In the first instance we seek to match existing drug therapies with detected mutations by characterizing mutations in genes and ascertaining the impact of mutations in biological pathways. This approach has revealed multiple mutations in the activated RAS pathway with some potential approaches to reduce oncogenic activation using existing experimental therapies. In the second instance, we sought to determine the extent of somatic heterogeneity in a solid tumor mass in order to ascertain how it might impact the molecular diagnosis of a tumor. Using a targeted sequencing approach to assay all the coding regions of ~17,000 genes we were able to determine changes in somatic mutations in relation to the particular locus sampled within a single colon tumor.