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Diagnostic yield, optimal timing, and methodology of next generation sequencing data reanalysis.
Next generation sequencing has becoming increasingly powerful in diagnosing Mendelian disorders, yet typically more than 50 percent of cases remain unsolved after an initial clinical exome or clinical genome sequencing. So a team of researchers set out to review the literature to attempt to answer the question: Is it worth reanalyzing unsolved cases, and if so, when should such a reanalysis take place to reap the most possible benefit? Tri Phan, PhD, professor of medicine at the Garvan Institute and the University of New South Wales in Sydney, joins this month’s GenePod to discuss the results of the research.