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Diagnostic Utility of Exome Sequencing for Kidney Disease

26 Dec 2018

Abstract excerpt

BACKGROUND: Exome sequencing is emerging as a first-line diagnostic method in some clinical disciplines, but its usefulness has yet to be examined for most constitutional disorders in adults, including chronic kidney disease, which affects more than 1 in 10 persons globally. METHODS: We conducted exome sequencing and diagnostic analysis in two cohorts totaling 3315 patients with chronic kidney disease. We...

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PMID: 30586318
DOI: 10.1056/nejmoa1806891

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