Clinical Assistant Professor
UNC Chapel Hill
Department of Genetics
Area of Interest
Genetic sequence information is rapidly becoming less expensive and available to more investigators and clinicians. However, the opportunities afforded by genomic data are accompanied by significant challenges in the organization, analysis, interpretation, and communication of the content and meaning of this information. As a board-certified clinical geneticist and pediatrician, I am keenly interested in advancing transformative technological solutions to overcome the barriers of big data that have often stymied progress toward genomic medicine.
I approach the challenges of genomic medicine using combined experiences in molecular biology, clinical genetics and bioinformatics. My research focus has been on the application of high-throughput sequencing to clinical and research questions in human genetics. Concurrently with and following my medical genetics residency, I worked in Sharon Plon’s laboratory at Baylor College of Medicine on projects identifying germline factors associated with risk of pediatric cancer. Working closely with the Human Genome Sequencing Center (HGSC) at Baylor, I analyzed whole-exome and whole-genome data from patients whose personal and/or family medical histories suggest an inherited predisposition to cancer.
I have also developed software (varitas: http://github.com/bpow/varitas) to annotate genomic variants with information from a variety of molecular and clinical reference data sets efficiently, while also allowing for update of information as the external data sources change. Development of such software requires interaction and feedback between groups producing the reference data, those using it, and the software authors. Tools such as this help clinicians and researchers more efficiently and effectively interpret sequence data.
I recognize that the deluge of data resulting from increased capacity for genome-scale sequencing will require approaches for data management and analysis at a much larger scale than has been used in genomic medicine in the past. Accurate and efficient analysis and adjudication of genetic variants requires incorporation of information from disparate data sources. Optimal use of this information will require better tools for data access and analysis even when these data and the expertise needed for analysis must remain distributed due to institutional or ethical concerns. My research aims to implement tools and processes to facilitate this analysis.
Honors and Awards
- Resident/Fellow Teaching Award, Baylor College of Medicine Department of Genetics, 2012