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As Director of the Clinical Genomic Analysis (GENYSIS) Core (/genysis/), I work with clinical researchers to facilitate bioinformatic analysis, variant classification, and reporting of clinically significant results to IRB-approved study participants. I welcome the opportunity to work with clinical researchers across the clinical domains. Long-term career goals and interests are directed toward hereditary disease and increasing the diagnostic yield from next-generation sequencing (NGS), third-generation (long-read) sequencing and complimentary approaches such as RNA sequencing. This includes supporting and harnessing available resources to better classify sequence variants, and involvement with initiatives and research studies to validate algorithms for robustly detecting structural variation.
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CLINICAL/RESEARCH INTERESTS:
Bioinformatics, Chronic Kidney Disease, Clinical Informatics, Genetics, Genomics, Molecular Medicine, Sexual and Gender Minorities |