Performance testing for the sensitivity and resolution of low-pass WGS for small CNV detection
Window selection, together with sequencing depth, could influence CNV detection sensitivity and resolution of LP GS for small CNVs. This study provided a set of evaluation methods and pathways based on simulated samples and clinical cases. For CNVs < = 30 kb, 10-Kb window in 1-Kb increments and >= 50 M reads were recommended for LP GS. It would be advisable for clinical labs conducting LP GS to determine the range of sensitivity and resolution for different sliding windows and sequencing depth for CNV detection.
Authors
- Yeqing Qian (ORCID: https://orcid.org/0000-0002-5570-8423)
- Huizhen Yuan
- Tng Danny Jian Hang
- Guiqin Bai (ORCID: https://orcid.org/0000-0001-7229-9361)
- Hao Li (ORCID: https://orcid.org/0000-0001-5677-3377)
- Juan Li (ORCID: https://orcid.org/0000-0003-4245-4679)
- Yongyi Zou (ORCID: https://orcid.org/0000-0001-5869-7988)
- Shuhui Huang
- Yan Sun
- Danping Liu (ORCID: https://orcid.org/0009-0007-9723-6982)
- Minyue Dong (ORCID: https://orcid.org/0000-0002-4344-7924)
- Chuan Huang (ORCID: https://orcid.org/0000-0001-5965-0823)
- Yun Yang
Institutions
- BGI Group (China) (CN)
- Tianjin University of Traditional Chinese Medicine (CN)
- Ministry of Education (TH)
- Women's Hospital, School of Medicine, Zhejiang University (CN)
- Wuhan Children's Hospital (CN)
- Third Affiliated Hospital of Zhengzhou University (CN)
- BGI Genomics
- Huazhong University of Science and Technology (CN)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2025-11-22
- DOI
- https://doi.org/10.1186/s12920-025-02263-9
- Primary Topic
- Advanced MRI Techniques and Applications
- Type
- article
- Field-Weighted Citation Impact
- 0.00