Mutation rate heterogeneity and its determinants in genome by Dr. Arashdeep Singh

About this Class

Extensive investigations have revealed intra-genomic variation in somatic mutation rates influenced by the sequence composition, structure, and local chromatin features of the genome. I will review the literature on mechanisms underlying the intra-genome mutational heterogeneity and relate it to cancer driver gene identification. I will then discuss a compelling hypothesis relating the variation in mutation rates with the exonic inclusion levels. This investigation has unexpectedly revealed some potentially important differences between the Whole Exome Sequence (WES) and Whole Genome Sequence (WGS) data in terms of detecting exonic mutations