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SUMMARY:Tumor genomes shed light into somatic mutational processes and can
 cer vulnerabilities - Nuria Lopez-Bigas
DTSTART:20230223T130000Z
DTEND:20230223T140000Z
UID:TALK193834@talks.cam.ac.uk
CONTACT:112039
DESCRIPTION:Somatic mutations are the driving force of cancer genome evolu
 tion. The rate of somatic mutations appears to be greatly variable across 
 the genome due to variations in chromatin organization\, DNA accessibility
  and replication timing. In addition\, other variables that influence the 
 mutation rate in a local scale are starting to emerge. I will discuss rece
 nt findings from our lab on how genome conformation influences mutation ra
 te. These findings have important implications for our understanding of mu
 tational and DNA repair processes\, genome evolution and in the identifica
 tion of cancer driver mutations. \n \nGiven the evolutionary principles of
  cancer\, one effective way to identify cancer genes is by tracing the sig
 nals left by the positive selection of driver mutations across tumours. Us
 ing this concept we analyze thousands of tumor genomes to generate a compe
 ndium of cancer genes across tumor types (http://www.intogen.org)\, and we
  build machine learning models inspired in evolutionary biology that effec
 tively 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 canc
 er medicine.\n \nSomatic mutations may also drive clonal expansions in nor
 mal tissues\, such as clonal hematopoiesis. We have performed a “reverse
  calling” to reliably identify blood somatic mutations in 12000 cancer p
 atients. Repurposing methods of cancer genomics we identify genes and muta
 tions driving clonal hematopoiesis (http://www.intogen.org/ch).\n \n
LOCATION:CRUK CI Lecture Theatre
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