O45: VUS is not a four-letter word: A better understanding of copy-number variants of unknown significance from examining a large dataset

Genetics in Medicine Open 2026 Open access

Read full text
Authors: Stuart Schwartz, Alexandra Arreola, Inder K. Gadi, Gloria Haskell, Judith F. Knops, Patrick A. Lennon, Zach Ou, Andrea L. Penton, Karen Phillips, Amanda Sussman, James H. Tepperberg, Robert G. Best
DOI: 10.1016/j.gimo.2026.104336
Cited by: 0

Abstract

Cytogenetic analysis has continued to evolve and while these improvements have allowed the detection of more diagnostic abnormalities, it has also identified more variants of uncertain significance (VUS), which has led to diagnostic dilemmas and problematic counseling. While VUS have been extensively studied with respect to sequencing, much less work has been done regarding the presence of gains or losses of whole genes detected by microarray analysis. Over the past 14 years, we have studied more than 350,000 specimens ascertained prenatally, postnatally or from pregnancy losses microarray analysis.

Fields of Study & Subjects

Genomic variations and chromosomal abnormalities Prenatal Screening and Diagnostics Genomics and Rare Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104336–104336
Publication date
1 January 2026
Language
EN