I oversee the development and deployment of analysis pipelines meant to identify genetic variants of interest from clinical "next-gen" sequencing data generated in a CLIA/CAP environment.Primarily I am interested in extracting as much information as we can from sequencing data while also streamlining the presentation of said data to downstream molecular geneticists and genetic counselors so that assessments of clinical relevance and actionability can be made in final reports released to clinicians and patients. This work often leads to collaboration in basic research projects pertaining to the impacts of genetic variation to human health, which is likewise an ongoing interest of mine.Additionally, I am increasingly interested in exploring how genetic data can be better integrated into the larger enterprise of healthcare so that genetic testing results and the methods used to generate them are transparent and part of a patient's medical history.

I developed a pipeline for the identification of genetic variants associated with inherited disease or tumor progression using Illumina sequencing data and I am responsible for the migration of this pipeline to cloud platforms.I developed strategies for using low-pass genome sequencing for copy-number variant (CNV) detection.As part of this pipeline development I also generated multiple databases (SQL and NoSQL) to manage sample workflows and collect run metadata for QC analysis relevant to CAP and CLIA certification.

Provided bioinformatics support on multiple genomics-level characterizations of an Arabidopsis RNA-directed DNA methylation pathway.Developed a genetic screen for effectors of the plant DNA damage response, as well as an accompanying bioinformatics pipeline for quickly mapping EMS-induced mutations via RNA-seq data as well as whole genome re-sequencing data.Utilized mixed-models and generalized linearized models to generate associations between methylation patterning and clinical traits in a well characterized human population.Developed novel whole-genome sequencing protocols for characterizing nuclear structure and DNA replication patterns.