Copy Number Variants of Uncertain Significance by Chromosome Microarray Analysis from Consecutive Pediatric Patients: Reevaluation Following Current Guidelines and Reanalysis by Genome Sequencing
The results from this study demonstrated the diagnostic value of periodic reevaluation of CNVus and reanalysis by WGS in an interval of 3-5 years and provided evidence to support standardized laboratory reevaluation and reanalysis.
Authors
- Laura R. Ment (ORCID: https://orcid.org/0000-0002-7623-5821)
- Hongyan Chai (ORCID: https://orcid.org/0009-0000-8653-166X)
- Wenjiao Li (ORCID: https://orcid.org/0000-0003-1308-8489)
- Michele Spencer‐Manzon
- Jiadi Wen (ORCID: https://orcid.org/0000-0002-5468-1003)
- Autumn DiAdamo (ORCID: https://orcid.org/0009-0005-9786-6445)
- Xiaolei Xie (ORCID: https://orcid.org/0000-0001-5279-6045)
- Abraham Joseph Avni-Singer
- JoAnne Burger
- Yuan Dai (ORCID: https://orcid.org/0000-0002-6705-1342)
- James Knight (ORCID: https://orcid.org/0000-0003-1166-0437)
- Emily Bistline
- Hui Zhang (ORCID: https://orcid.org/0000-0001-8791-5753)
- Peining Li (ORCID: https://orcid.org/0000-0003-4746-4905)
Institutions
- University of Pittsburgh (US)
- Yale Cancer Center (US)
- Yale University (US)
- Xiyuan Hospital (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Genes
- Published
- 2025-07-24
- DOI
- https://doi.org/10.3390/genes16080874
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00