Partners HealthCare Team Improves Dx Rate of NGS Panel by Isolating Gene from its Pseudogene | GenomeWeb

NEW YORK (GenomeWeb) – Researchers at Harvard University Partners HealthCare's Laboratory of Molecular Medicine have demonstrated that they can improve the diagnostic rate of a 70-gene hearing loss panel by ensuring that they are not inadvertently analyzing the nearly identical pseudogene of a critical gene on the panel.

The strategy can also be applied to other medically relevant genes on next-gen sequencing panels and exomes, according to the researchers.

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