Join me on December 5th for a one-hour webcast 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.