Shamil Sunyaev, Harvard Med Sch, Human germ line and somatic mutation rates: evolution, biology and statistical genetics
Sequencing technology enabled systematic identification of de novo germ line mutations and somatic mutations in cancer. Mutation rate appears to be variable along the human genome. Replication timing, chromatin accessibility and negative selection maintaining hypermutable sequence contexts all contribute to the mutation rate heterogeneity. The data on somatic mutations suggest that Global Genome Repair (GGR) system is responsible for the dependence of mutation rate on chromatin accessibility. Two evolutionary models may potentially explain the origin of mutation rate heterogeneity. The heterogeneity of mutation rate along the human genome has important consequences for evolutionary genomics and for statistical genetics approaches based on recurrent mutations.
Location: Carl Icahn Lab 101
Date/Time: 12/10/12 at 4:15 pm - 12/10/12 at 5:15 pm
Category: Quantitative & Computational Biology
Department: Lewis-Sigler Institute