Thursday, September 1, 2016

Abstract for talk at Penn Bioinformatics Forum (Sep. 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 regions great
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 alleles
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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