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.
Mentor Training:
- Bias 101
- Everfi Course – Harrassment and Discrimination Prevention
Publications
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

January 30, 2023
Department of Genetics Publications for January 15th – 28th, 2023
Department of Genetics faculty, postdocs, students and collaborators published 16 papers during January 15th – 28th, 2023.

December 5, 2022
Department of Genetics Publications for November 20th – December 3rd, 2022
Department of Genetics faculty, postdocs, students and collaborators published 12 papers during November 20th – December 3rd, 2022.

November 7, 2022
Department of Genetics Publications for October 23rd – November 5th, 2022
Department of Genetics faculty, postdocs, students and collaborators published 19 papers during October 23rd – November 5th, 2022.

June 19, 2022
Department of Genetics Publications for June 5th – 18th, 2022
Department of Genetics faculty, postdocs, students and collaborators published 16 papers during June 5th – 18th, 2022.

April 11, 2022
Department of Genetics Publications March 27th – April 9th, 2022
Department of Genetics faculty, postdocs, students and collaborators published 17 papers during March 27th – April 9th, 2022.

January 31, 2022
Department of Genetics Publications January 16th – 29th, 2022
Department of Genetics faculty, postdocs, students and collaborators published 17 papers during January 16th – 29th, 2022.

June 28, 2021
Department of Genetics Publications for June 13-26, 2021
Department of Genetics faculty, postdocs, students and collaborators published twenty one papers during June 13-26, 2021.

April 5, 2021
Department of Genetics Publications for March 21-April 3, 2021
Department of Genetics faculty, postdocs, students and collaborators published fifteen papers during March 21-April 3, 2021.

November 2, 2020
Department of Genetics Publications for October 11-31, 2020
Department of Genetics faculty, postdocs, students and collaborators published 18 papers during October 11-31, 2020. Survival, Pathologic Response, and Genomics in CALGB 40601 (Alliance), a Neoadjuvant Phase III Trial of Paclitaxel-Trastuzumab With or Without Lapatinib in HER2-Positive Breast Cancer. Fernandez-Martinez A, Krop IE, Hillman DW, Polley MY, Parker JS, Huebner L, Hoadley KA, …

September 8, 2020
Department of Genetics Publications for August 23 – Sept. 5, 2020
Department of Genetics faculty, postdocs, students and collaborators published eight papers during August 23 – Sept. 5, 2020.