The Workshop is held from 1:30-2:50pm in Medical School Office Building (MSOB), Rm x303, 1265 Welch Road, Stanford, unless otherwise specified on the calendar at the link below.
Germline mutations are the main drivers of evolution and the source of many heritable diseases. Understanding the rate and mechanisms by which mutations occur is of paramount importance for studies of human genetics (to interpret the incidence of rare diseases) and evolutionary biology (to date evolutionary events). Despite strong constraints in replication machinery across species, recent studies have documented considerable interspecies and inter-individual variation. Both the overall mutation rate and mutation spectra (the relative proportions of different mutation types) have been shown to differ across species and among human populations. Whole-genome sequencing of pedigrees has enabled direct survey of newly arising mutations (i.e., de novo mutations) and rather than answering questions about the mechanisms involved, it has revealed many puzzles about mutation rate and its evolution. In this talk, I will present analysis of whole genome sequences of pedigrees of humans and other primates and discuss how sex, age and time impact the evolution of mutation rate. These analyses provide insights about the process of mutagenesis and help build a reliable molecular clock for dating evolutionary events.