Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study

Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study

Abstract Background 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 s...

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Bibliographic Details
Main Authors: Jean-Marie Ravel, Mathilde Renaud, Jean Muller, Aurélie Becker, Émeline Renard, Thomas Remen, Geneviève Lefort, Mylène Dexheimer, Philippe Jonveaux, Bruno Leheup, Céline Bonnet, Laëtitia Lambert
Format: Article
Language:English
Published: BMC 2023-05-01
Series:Genome Medicine
Subjects:
Array-CGH
Copy-number variation
CNV
VUS reinterpretation
ACMG criteria
Online Access:https://doi.org/10.1186/s13073-023-01191-6

Internet

https://doi.org/10.1186/s13073-023-01191-6

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