Article

The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients

2021-07-07

Abstract excerpt

<h4>Background: </h4> Whole exome sequencing (WES) is becoming part of routine clinical and diagnostic practice. In the investigation of inherited cystic kidney disease and renal ciliopathy syndromes, WES has been extensively applied in research studies as well as for diagnostic utility to detect various novel genes and variants. The yield of WES critically depends on the characteristics of the patient population....

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Literature Corpus work: 321ed047-4389-5989-a1f3-fccba066c1e4
DOI: 10.12688/f1000research.40338.2

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