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Concordance between whole‐exome sequencing and clinical Sanger sequencing: implications for patient care

10 May 2016

Abstract excerpt

The clinical translation of next-generation sequencing has created a paradigm shift in the diagnostic assessment of individuals with suspected rare genetic diseases. Whole-exome sequencing (WES) simultaneously examines the majority of the coding portion of the genome and is rapidly becoming accepted as an efficient alternative to clinical Sanger sequencing for diagnosing genetically heterogeneous disorders. Among...

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PMID: 27652278
DOI: 10.1002/mgg3.223

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