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. I am also 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.
Publications/Creative Works
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Affiliations
Research Consortia
Gulf Coast Cluster for Artificial Intelligence in Healthcare
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