Exome-First Strategy in Adult Patients With CKD: A Cohort Study.
Fiche publication
Date publication
mars 2023
Journal
Kidney international reports
Auteurs
Membres identifiés du Cancéropôle Est :
Pr LEBRE Anne-Sophie
Tous les auteurs :
Doreille A, Lombardi Y, Dancer M, Lamri R, Testard Q, Vanhoye X, Lebre AS, Garcia H, Rafat C, Ouali N, Luque Y, Izzedine H, Esteve E, Cez A, Petit-Hoang C, François H, Marchal A, Letavernier E, Frémeaux-Bacchi V, Boffa JJ, Rondeau E, Raymond L, Mesnard L
Lien Pubmed
Résumé
Exome sequencing (ES) has widened the field of nephrogenomics in adult nephrology. In addition to reporting the diagnostic yield of ES in an adult cohort study, we investigated the clinical implications of molecular diagnosis and developed a clinical score to predict the probability of obtaining positive result.
Mots clés
CKD of unknown origin, exome sequencing, nephrogenomics
Référence
Kidney Int Rep. 2023 03;8(3):596-605