Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewed
Application of Full Genome Analysis to Diagnose Rare Monogenic Disorders
Joseph T.C. Shieh, Monica Penon‐Portmann, Karen H. Y. Wong…·Dario Boffelli
This study evaluates the Full Genome Analysis method for diagnosing rare monogenic disorders, finding a 40% diagnostic yield in clinical cases.
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