Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study.
Fiche publication
Date publication
mai 2023
Journal
Genome medicine
Auteurs
Membres identifiés du Cancéropôle Est :
Dr BONNET Céline
Tous les auteurs :
Ravel JM, Renaud M, Muller J, Becker A, Renard É, Remen T, Lefort G, Dexheimer M, Jonveaux P, Leheup B, Bonnet C, Lambert L
Lien Pubmed
Résumé
Array-CGH is the first-tier genetic test both in pre- and postnatal developmental disorders worldwide. Variants of uncertain significance (VUS) represent around 10~15% of reported copy number variants (CNVs). Even though VUS reanalysis has become usual in practice, no long-term study regarding CNV reinterpretation has been reported.
Mots clés
ACMG criteria, Array-CGH, CNV, Copy-number variation, VUS reinterpretation
Référence
Genome Med. 2023 05 23;15(1):39