Whole exome sequencing enhances diagnosis of hereditary bronchiectasis
We have described the supporting clinical features of patients with hereditary bronchiectasis. Clinicians should recommend WES for patients exhibiting these characteristics, in combination with accessible non-genetic testing methods, to maximize diagnostic accuracy. For patients with negative initial genetic test results, re-analysis of WES data may facilitate obtaining a new diagnosis.
Authors
- Qiaoling Chen
- Miaoyan Zhang
- Xinlun Tian (ORCID: https://orcid.org/0000-0003-4307-6665)
- Wangji Zhou (ORCID: https://orcid.org/0000-0003-0308-8450)
- Keqi Chen (ORCID: https://orcid.org/0000-0001-9383-9910)
- Yaqi Wang (ORCID: https://orcid.org/0000-0002-4741-5348)
- Yixuan Li (ORCID: https://orcid.org/0000-0003-1589-0395)
- Ting Zhang (ORCID: https://orcid.org/0000-0002-6100-8327)
- Shuzhen Meng
- Haixia Zheng (ORCID: https://orcid.org/0000-0002-3470-2313)
- Yaping Liu (ORCID: https://orcid.org/0000-0003-2680-4536)
- Kaifeng Xu (ORCID: https://orcid.org/0000-0003-0554-4915)
- Aohua Wu
- Xue Zhang (ORCID: https://orcid.org/0000-0002-1243-475X)
- Jinrong Dai
- Xue‐Qi Liu (ORCID: https://orcid.org/0000-0002-8295-032X)
- Miao He
- Christopher Situ
Institutions
- University of Toronto (CA)
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Peking Union Medical College Hospital (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-03-24
- DOI
- https://doi.org/10.1186/s13023-025-03661-z
- Citations
- 4
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 6.07
Funders
- Institute for Health Care Improvement
- National Natural Science Foundation of China
- National Key Research and Development Program of China