INTEGRATED APPROACHES TO UNDERSTANDING NOVEL GENETIC VARIANTS IDENTIFIED THROUGH MOLECULAR DIAGNOSTIC TESTING
Meera J. Patel, MS; Subhasis B. Biswas, PhD; and Esther E. Biswas-Fiss, PhD, MB(ASCP)CM* Novel variants of unknown significance are often discovered through genetic testing, which may give rise to the unclear prognosis of pathogenicity. Integration of molecular diagnostic testing with in silico bioinformatic tools and biomedical research can provide enhanced clarification on disease association…