Hosted by Cardiff University's School of Medicine

Abstract: Somatic mutations are the driving force of cancer genome evolution. Given the evolutionary principles of cancer, one effective way to identify cancer genes is by tracing the signals left by the positive selection of driver mutations across tumours. Using this concept we analyze thousands of tumor genomes to generate a compendium of cancer genes across tumor types (http://www.intogen.org), and we build machine learning models inspired in evolutionary biology that effectively identify driver mutations in each gene and cancer type (http://www.intogen.org/boostdm). The results (integrated in CancerGenomeInterpreter.org) contribute to the interpretation of tumor mutations in precision cancer medicine. We are currently developing CGI for clinical use with the project CGIclinics.eu.

Somatic mutations may also drive clonal expansions in normal tissues, such as clonal hematopoiesis. We have performed a “reverse calling” to reliably identify blood somatic mutations in 12000 cancer patients. Repurposing methods of cancer genomics we identify genes and mutations driving clonal hematopoiesis.

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Biography: Nuria Lopez­-Bigas is a research professor with expertise in medical genetics, computational biology, and bioinformatics. She is an ICREA (Catalan Institution for Research and Advanced Studies) professor at Pompeu Fabra University and she also leads the Biomedical Genomics Research Group at the Institute for Research in Biomedicine in Barcelona. Prof. Lopez-Bigas is Fellow of the International Society of Computational Biology.

Following her PhD, she transitioned into bioinformatics during her postdoc at the European Bioinformatics Institute. Since 2006, she leads a research group in Barcelona focused on the study of cancer from a genomics perspective, such as identification of cancer driver mutations, genes and pathways across tumor types and in the study of their targeted opportunities, and 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. They have recently discovered that transcription factors (TF) and nucleosomes interfere with DNA damage and DNA repair producing variable mutation rate along TF binding sites and nucleosomes covered regions.