Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies
This study provides our data on the detection rate of whole exome sequencing in fetal anomalies in a large cohort. It contributes to the expanding of phenotypic and genotypic spectrum.
Authors
- Pengzhen Jin (ORCID: https://orcid.org/0000-0001-5098-4050)
- Yeqing Qian (ORCID: https://orcid.org/0000-0002-5570-8423)
- Jiawei Hong
- Yuqing Xu (ORCID: https://orcid.org/0000-0001-8864-3112)
- Minyue Dong (ORCID: https://orcid.org/0000-0002-4344-7924)
- Shuning Han
Institutions
- Ministry of Education (NZ)
- Ministry of Education of the People's Republic of China (CN)
- Ministry of Education (TH)
- Women's Hospital, School of Medicine, Zhejiang University (CN)
- Zhejiang University (CN)
Publication Details
- Journal
- BMC Pregnancy and Childbirth
- Published
- 2024-09-09
- DOI
- https://doi.org/10.1186/s12884-024-06782-8
- Citations
- 5
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 5.55
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Zhejiang Province