Assistant Professor, Department of Molecular and Human Genetics
B.A., Kalamazoo College, Kalamazoo, Mich., 2004
Ph.D., Baylor College of Medicine, Houston, 2013
I lead a team of informaticians responsible for multiple research projects and production systems, including the primary NGS pipeline for the HGSC Clinical Laboratory. I am responsible for the development and maintenance of bioinformatics pipelines that provide quality control metrics, alignment files, genomic annotation, and variant calls for whole genome and whole exome data. Additionally, I am the chief architect and lead developer for the clinical reporting pipeline for the HGSC-CL laboratory, including software components that manage manual review of variant information by clinical geneticists. These tools are in use for multiple large projects, including the eMERGE Network, the Right10K pharmacogenomics collaboration with the Mayo Clinic, the Undiagnosed Disease Network in collaboration with the Baylor-Miraca Genetics Laboratory and the KidsCanSeq project in collaboration with Texas Children's Hospital as part of the Clinical Sequencing Evidence-Generating Research (CSER) consortium.
In my role as team lead for the clinical informatics team, I have overseen development of data commons and web-portal projects which facilitate collaboration and data exchange. I am a member of the Sequence Analysis working committee for NIH's Undiagnosed Diseases Network, the Sequence Analysis and Diagnostic Yield (SADY) working group for CSER and the Electronic Health Record Integration (EHRI) working group in eMERGE. In support of these projects, I ensure that all clinical analyses and compute infrastructure meet turn-around-time and CAP/CLIA compliance requirements while delivering clinically actionable sequence data, variants, and patient reports. Under my leadership, the Clinical Informatics team is active in multiple areas of research, especially CNV detection and clinical variant annotation and prioritization. For the eMERGE project, I coordinates with the partner sequencing center on various harmonization activities and have overseen operations for delivering over 10,000 clinical reports to our collaborators around the country. I have more than 10 years of experience using state-of-the-art computing technologies to address scientific problems in computational biology spanning genomics, variant analysis, clinical reporting and protein function prediction. In addition, I draw upon my software industry experience, where I worked on nearly a dozen projects and developed high-quality commercial software tools with hundreds of users.