Monday, September 26, 2016

Abstract for talk at UNC Charlotte (Nov. 2016)


Personal Genomics


My talk will focus on a variety of topics in personal genomics,
principally on how we interpret and prioritize the many variants in a
personal genome. I will concentrate on rare and somatic variants. I
will discuss a number of ways of assessing their impact in coding
regions using protein structure (via looking for cryptic allosteric
sites and regions of change in frustration). For non-coding regions,
I will present ways to analyze the overall burden of mutations,
finding allelic elements differentially affected by variants in
paternal and maternal chromosomes and using network connectivity (eg
hubs) to prioritize variants. Throughout the talk I will highlight a
number of practical software tools that we have developed for
prioritization, including:,, and . I will also motivate the talk a bit by
discussing why prioritization is useful in the context of rapidly
increasing amounts of genome sequences.



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