Optical genome mapping uncovers clinically relevant structural variants in congenital heart disease with heterotaxy
Our findings highlight the utility of OGM in analyzing the genetic etiology of CHD/HTX and contribute to broadening of the complex genetic landscape underlying these diseases.
Authors
- Zhiyu Feng (ORCID: https://orcid.org/0000-0001-5335-5823)
- Quannan Zhuang
- Siyi Lin
- Xueying Tian (ORCID: https://orcid.org/0000-0003-1113-0057)
- Weicheng Chen (ORCID: https://orcid.org/0000-0002-2067-4403)
- Shuolin Li
- Wei Sheng (ORCID: https://orcid.org/0000-0001-7473-0864)
- Guoying Huang (ORCID: https://orcid.org/0000-0003-0505-5839)
- Jingwei Sun (ORCID: https://orcid.org/0000-0003-1945-3854)
- Siyu Sun (ORCID: https://orcid.org/0009-0000-8939-1359)
- Yuquan Lu (ORCID: https://orcid.org/0000-0002-1486-0015)
- Xianghui Huang
- Yuan Gao (ORCID: https://orcid.org/0009-0009-4598-2486)
- Shaojie Min
Institutions
- Bengbu Medical College (CN)
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Obstetrics and Gynecology Hospital of Fudan University (CN)
- First Affiliated Hospital of Bengbu Medical College (CN)
- Children's Hospital of Fudan University (CN)
- Children’s Hospital of Fudan University Xiamen Branch (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-12-05
- DOI
- https://doi.org/10.3389/fgene.2025.1673539
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Natural Science Foundation of Xiamen City
- National Natural Science Foundation of China
- National Key Research and Development Program of China