Article

Molecular Findings Among Patients for Whole Exome Sequencing and mitochondrial genome assessment

2023-09-08

Abstract excerpt

<title>Abstract</title> <p><bold>Objective:</bold> Whole exome sequencing (WES) is increasingly used as a diagnostic tool in medicine. We report the diagnostic yield of WES and mitochondrial genome in 2226 consecutive cases at a single clinical laboratory. <bold>Methods:</bold> We performed a retrospective analysis of consecutive WES reports of 2226 patients affected by a range of genetic disorders. The WES was p...

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Literature Corpus work: 3dbf1330-33b3-5870-9d8d-6f9ab76977b0
DOI: 10.21203/rs.3.rs-3309204/v1

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