SVseq discloses the genomic complexity of different prenatal, de novo, apparently balanced chromosome rearrangements detected by CMA and karyotype
The SVseq method has a higher positive detection rate for BCRs than conventional techniques. It is crucial to provide BCR individuals, especially fetuses, with SV validation, genetic counseling, and clinical evaluation.
Authors
- Xiangyou Leng (ORCID: https://orcid.org/0000-0001-7046-2233)
- Zhuo Zhang (ORCID: https://orcid.org/0000-0002-2095-8246)
- Chun Chen (ORCID: https://orcid.org/0000-0001-7736-6498)
- Shengfang Qin
- Yan Yin (ORCID: https://orcid.org/0000-0001-9134-3559)
- Xueyan Wang (ORCID: https://orcid.org/0000-0003-1277-9165)
- Jin Wang (ORCID: https://orcid.org/0000-0003-4961-6618)
Institutions
- Chengdu Women's and Children's Central Hospital (CN)
Publication Details
- Journal
- The Italian Journal of Pediatrics/Italian journal of pediatrics
- Published
- 2025-05-24
- DOI
- https://doi.org/10.1186/s13052-025-01987-9
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00