Diagnostic Utility of Trio–Exome Sequencing for Children With Neurodevelopmental Disorders
In this cohort study, trio-ES, by simultaneously detecting SNVs and CNVs, achieved a diagnostic yield of 46.1%. Trio-ES may be particularly applicable for identifying small CNVs and recessive genetic diseases involving both SNVs and CNVs. These findings suggest that in clinical practice, simultaneously analyzing SNVs and CNVs using trio-ES data has a favorable genetic diagnostic yield for children with NDDs.
Authors
- Xiaoping Lan (ORCID: https://orcid.org/0000-0002-6547-9230)
- Guangjun Yu (ORCID: https://orcid.org/0000-0002-7179-0789)
- Hong Zhang (ORCID: https://orcid.org/0000-0002-0886-9531)
- Haiyun Ye (ORCID: https://orcid.org/0000-0003-4458-2180)
- Xiaojun Tang (ORCID: https://orcid.org/0000-0003-0560-7314)
- Hong Sun (ORCID: https://orcid.org/0000-0003-1306-7629)
- Yongchen Yang
- Shengnan Wu (ORCID: https://orcid.org/0000-0002-2245-2273)
- Xiaozhen Song
- Wenhao Weng (ORCID: https://orcid.org/0000-0002-3185-6421)
- Wuhen Xu
Institutions
- Shanghai Jiao Tong University (CN)
- Shenzhen Maternity and Child Healthcare Hospital (CN)
- Shanghai Children's Hospital (CN)
- Southern Medical University (CN)
Publication Details
- Journal
- JAMA Network Open
- Published
- 2025-03-25
- DOI
- https://doi.org/10.1001/jamanetworkopen.2025.1807
- Citations
- 11
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 19.99