Presenter: Gabe Rudy, VP of Product Development
Date: December 5, 2012
Duration: 85 Minutes
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Join me as I explore my personal exome provided by the Exome Pilot project of 23andMe.
Exome sequencing has seen many success stories in the realm of diagnosing highly penetrant monogenic disorders as well as in informing treatment of certain cancers. As the use of exome sequencing expands to more complex polygenic disorders and peeks into the realm of consumer genetics, we are faced with a set of challenges in both the bioinformatics and interpretation steps of analysis.
I will be acting as an asymptomatic consumer enthusiast as I apply the transparent techniques of high-impact variant discovery using SNP & Variation Suite (SVS) and GenomeBrowse.
These analysis techniques will reflect those commonly used in a clinical diagnostic lab setting to find putative variants for monogentic disorders. As I weed out false positives and genes with low functional significance, I will face the more daunting challenge of interpreting highly credible loss of function or missense variants and what if any impact that would infer to my disease risk, pharmacogenomic profile, or other annotated genomic traits.
Gabe Rudy is GHI's Vice President of Product Development and team member since 2002. Gabe thrives in the dynamic and fast-changing field of bioinformatics and genetic analysis. Leading a killer team of Computer Scientists and Statisticians in building powerful products and providing world-class support, Gabe puts his passion into enabling Golden Helix's customers to accelerate their research. When not reading or blogging, Gabe enjoys the outdoor Montana lifestyle. But most importantly, Gabe truly loves spending time with his sons and wife. Follow Gabe on Twitter @gabeinformatics.