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Exome Sequencing in Clinical Hepatology

21 Jun 2019

Abstract excerpt

The clinical relevance of the Human Genome Project and next-generation sequencing technology was demonstrated for the first time in 2009, when whole-exome sequencing (WES) provided the definitive diagnosis of congenital chloride diarrhea in an infant with presumed renal salt-wasting disease. Over the past decade, numerous studies have shown the utility of WES for clinical diagnosis as well as for discovery of...

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PMID: 31222768
DOI: 10.1002/hep.30826

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