Join us for the next instalment of the STAGE International Speaker Seminar Series (ISSS) with
Benjamin Voight
Assistant Professor
Department of Systems Pharmacology
and Translational Therapeutics
Department of Genetics
Perelman School of Medicine
University of Pennsylvania
Talk Title:
Genome-Wide Mutation Rates Viewed Through a Seven Nucleotide Window
Abstract:
The rate of single-nucleotide polymorphism varies substantially across the human genome and fundamentally influences evolution and incidence of genetic disease. Previous studies have only considered the immediately flanking nucleotides around a polymorphic site—the site’s trinucleotide sequence context—to study polymorphism levels across the genome. Moreover, the impact of larger sequence contexts has not been fully clarified, even though context substantially influences rates of polymorphism. I will describe a new statistical framework we apply to data from the 1000 Genomes Project to demonstrate that a heptanucleotide (seven nucleotide) context window explains a large fraction of variability in substitution probabilities in the human genome along. We identify new, mutation promoting sequence motifs as well as additional rate variation at sequence contexts known to be highly mutable (CpG sites). I will describe application of our model and computational tools we are developing to interpret human disease genetic studies of de novo mutational burden.
Speaker Profile:
Unavailable
Speaker Poster:
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