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Article

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

23 May 2023

Abstract excerpt

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 study regarding CNV reinterpretation has been reported. METHODS: This retrospective study examined 1641 CGH arrays performed...

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PMID: 37221613
DOI: 10.1186/s13073-023-01191-6

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