Computational analysis of cancer genomes
by Núria Lopez-Bigas of IRB Barcelona
Somatic mutations are the driving force of cancer genome evolution. Given the evolutionary principles of cancer, one effective way to identify genes involved in cancer is by tracing the signals left by the positive selection of driver mutations across tumours. We analyze thousands of tumor genomes to identify driver mutations in the genome (results available at http://www.intogen.org). The analysis of tumor cohorts provides valuable information to improve the interpretation of individual variants detected in newly sequenced tumors in clinical or research settings. We have developed CancerGenomeInterpreter.org, a tool designed to identify driver mutations and biomarkers of drug response in individual tumors.
Finally, by analyzing more than 3500 whole-genomes of treated metastatic patients we uncovered the mutational footprints (or mutational signatures) of commonly used cancer treatments. These signatures allowed us to measure the mutational toxicity of these treatments across patients and organs.
ICREA Research Professor Nuria Lopez-Bigas is a biologist with a PhD in molecular genetics of deafness. She transitioned into bioinformatics during her postdoc at the European Bioinformatics Institute (EBI). Since 2006, she leads a research group in Barcelona focused on the study of cancer from a genomics perspective. She is particularly interested in the identification of cancer driver mutations, genes and pathways across tumor types and in the study of their targeted opportunities. She is also interest in understanding the mutational processes leading to the accumulation of mutations in cancer cells. Her lab has done important contributions in the discovery of the variation of mutation rate along the genome. In 2020, Núria Lopez-Bigas was te first female scientitst awarded with the National ‘Doctores Diz Pintado’ Cancer Research Prize.
The colloquium is part of the BIST Master of Research curriculum but is also open and free for anyone interested in participating.
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