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Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders

11 Jun 2020

Abstract excerpt

Background: Both whole exome sequencing and copy number variants sequencing were applied to identify genetic cause of rare pediatric disorders. In our study, we aimed to investigate the diagnostic yield of parallel tests of trio whole exome sequencing and copy number variants sequencing and its clinical utility. Methods: After collecting detailed clinical information, a total of 60 patients were referred to...

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PMID: 32595695
DOI: 10.3389/fgene.2020.00473

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