Overview

Bioinformatics is a subdivision within the Division of Genomic Diagnostic and Bioinformatics. The Bioinformatics Subdivision develops, manages, and collaborates across all clinical and research programs within the division. We are involved in the development and implementation of computational biology and data science methods to aid in the planning, development, testing,and validation of assays. We liaise with IT, clinical, and vendors to provision necessary hardware and software. We are engaged in a variety of computational biology research programs to derive useful knowledge from -omic data. 

Training

We are involved with a number of training programs within the division and provide training in computational biology and data science methodologies across the UAB School of medicine.

Testing

Targeted Next Generation Sequencing (NGS) Panels. DNA and RNA sequencing approaches. Pharmacogenomics test development.

Projects & Programs

Methods and tools for variant identification, annotation, and interpretation including both secondary and tertiary analysis methods and tools for variant interpretation. Machine learning and deep learning methods to increase efficiency and decrease time requirements for variant identification, interpretation, and confirmation. Identification of genetic modifiers and polygenic risk. Clinical genetic data management and analytics across several testing platforms. We have a number of collaborative projects and programs with faculty from across the UAB Heersink School of Medicine.