The Role of Deep Phenotyping of Precision Medicine for Rare Bone Diseases
10.12376/j.issn.2097-0501.2023.04.002
- VernacularTitle:深度表型评估在罕见骨病精准医疗中的作用
- Author:
Guozhuang LI
1
,
2
,
3
;
Kexin XU
1
,
2
,
3
;
Zhihong WU
3
,
4
,
5
,
6
;
Jianguo ZHANG
1
,
2
,
3
,
5
;
Guixing QIU
1
,
2
,
3
,
5
;
Nan WU
1
,
2
,
3
,
5
Author Information
1. Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
2. Peking Union Medical College, Beijing 100730, China.Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Key Laboratory of Big Data for Spinal Deformities, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
3. Peking Union Medical College, Beijing 100730, China.
4. Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Key Laboratory of Big Data for Spinal Deformities, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
5. Peking Union Medical College, Beijing 100730, China.State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
6. Peking Union Medical College, Beijing 100730, China.Medical Research Center, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
- Publication Type:Journal Article
- Keywords:
phenotype;
deep phenotyping;
rare bone diseases;
clinical genetics;
precision medicine
- From:
JOURNAL OF RARE DISEASES
2023;2(4):469-475
- CountryChina
- Language:Chinese
-
Abstract:
Deep phenotyping is a precise and comprehensive approach used for the precise analysis and comprehensive assessment of multi-system phenotypes of the patients. The approach uses symptoms, signs, various medical examination and laboratory results, and other relevant medical information. In the clinical diagnosis and medical research of rare bone diseases, deep phenotyping plays a pivotal role. The realization of precision medicine primarily comprises three key dimensions: deep phenotyping, stratified medicine, and targeted therapy. The deep phenotyping is the basis for the latter two. Deep phenotyping not only facilitates fine subtyping of diseases, but also allows for the in-depth understanding of genetic data. The use of deep phenotyping requires stand- ardized terminology and specific procedures. Moreover, deep phenotyping shows substantial potential using the application of artificial intelligence technology particularly when combining with multi-omics techniques.
