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Article

Clinical Exome Reanalysis: Current Practice and Beyond.

Molecular diagnosis & therapy - 1 Sept 2021

Ji Jianling, Leung Marco L, Baker Samuel, Deignan Joshua L, Santani Avni

Abstract excerpt

Novel gene-disease discoveries, rapid advancements in technology, and improved bioinformatics tools all have the potential to yield additional molecular diagnoses through the reanalysis of exome sequencing data. Collaborations between clinical laboratories, ordering physicians, and researchers are also driving factors that can contribute to these new insights. Automation in ongoing natural history collection,...

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PMID: 34283395
DOI: 10.1007/s40291-021-00541-7
PMCID: PMC8410709

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