At ACMG, Researchers Report Data Re-Analysis, Matchmaking Boosts Solved Exome Cases | GenomeWeb

TAMPA (GenomeWeb) – Many clinical exome sequencing studies of hereditary diseases have reported diagnostic yields on the order of 25 percent, meaning that about three quarters of patients are left without a molecular diagnosis. At the American College of Medical Genetics and Genomics annual meeting today, researchers from Baylor College of Medicine and Johns Hopkins University School of Medicine reported on strategies for boosting the diagnostic rate by reanalyzing exome data and using matchmaking tools to find similar cases.

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