Bradford Powell, MD, PhD

Research Interests

Keywords: Bioinformatics, Clinical Genetics, Data Modeling, Data Science, Implementation of Genome-scale Sequencing

My research group focuses on the application of data science to the implementation of genome-scale sequencing in the clinical setting. From a very high-level view, we are interested in the ways that information is extracted from sequence data and the relevant literature and how this information flows from the laboratory to physicians and patients to directly impact patient care. Projects include:

Diagnostic genome-scale sequencing: We have developed and maintain scalable and reproducible techniques for analysis of genome/exome sequencing for diagnostic evaluation of patients with a variety of reasons for testing. Current studies include evaluation of exome sequencing vs. usual care in initial visits to a pediatric genetics or neurology clinic (in collaboration with Jonathan Berg), and for diagnosis of pregnancies affected by fetal anomalies (in collaboration with Neeta Vora). We aim to increase the efficiency and accuracy of analysis of these data through incorporation of granular and formally-described phenotype data.

Data modeling to improve representation of clinical genetic evidence: Members of my group have been involved in development of the ClinGen data model for interpretation of variant pathogenicity (https://dataexchange.clinicalgenome.org/interpretation). Along with ClinGen collaborators, we are extending this model to more consistently represent evidence from functional experiments of variant effect. The data in the biomedical literature are complex, and frequently the lack of structured representation impedes searchability and usability of these data. We are developing techniques and tools to enable trained biocurators to annotate the relevant portions of a scientific manuscript such that downstream processing can produce a computer-readable structured representation.

Publications

• PubMed
• Google Scholar

Teaching:

• Director of the Genetics Coil for 1st and 2nd year medical students
• Clinical mentor/supervisor in the Clinical Genetics and Genomics residency program

Clinical activities:

• Active board certification in Clinical Genetics and Genomics and in Pediatrics
• Attending physician in the UNC Adult Genetics, Cancer Genetics, and Pediatric Cancer Genetics clinics.

Bradford Powell in UNC Genetics News