Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.

Marion AlmesAnne SpraulMathias RuizMuriel GirardBertrand RoquelaureNolwenn LabordeFréderic GottrandAnne TurquetThierry LamireauAlain DabadieMarjorie BonnetonAlice ThebautBabara RohmerFlorence LacaillePierre BrouéAlexandre FabreKarine Mention-MulliezJérôme BouligandEmmanuel JacqueminEmmanuel M Gonzales

Published in: Diagnostics (Basel, Switzerland) (2022)

NGS is a useful diagnostic tool in pediatric cholestasis, providing a certain diagnosis in 28.1% of the patients included in this study. In the remaining patients, especially those with variants of uncertain significance, the imputability of the variants requires further investigations.

Keyphrases

end stage renal disease
ejection fraction
chronic kidney disease
copy number
prognostic factors
gene expression
drug delivery
cancer therapy
patient reported
cell free