The Role of Deep Phenotyping of Precision Medicine for Rare Bone Diseases
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 clinic...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | zho |
| Published: |
Editorial Office of Journal of Rare Diseases
2023-10-01
|
| Series: | 罕见病研究 |
| Subjects: | |
| Online Access: | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.04.002 |
| _version_ | 1797370232909594624 |
|---|---|
| author | LI Guozhuang XU Kexin WU Zhihong ZHANG Jianguo QIU Guixing WU Nan |
| author_facet | LI Guozhuang XU Kexin WU Zhihong ZHANG Jianguo QIU Guixing WU Nan |
| author_sort | LI Guozhuang |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-08T17:58:25Z |
| format | Article |
| id | doaj.art-8ca809fdfad04eef938397d23aab0e6d |
| institution | Directory Open Access Journal |
| issn | 2097-0501 |
| language | zho |
| last_indexed | 2024-03-08T17:58:25Z |
| publishDate | 2023-10-01 |
| publisher | Editorial Office of Journal of Rare Diseases |
| record_format | Article |
| series | 罕见病研究 |
| spelling | doaj.art-8ca809fdfad04eef938397d23aab0e6d2024-01-02T03:11:55ZzhoEditorial Office of Journal of Rare Diseases罕见病研究2097-05012023-10-012446947510.12376/j.issn.2097-0501.2023.04.002The Role of Deep Phenotyping of Precision Medicine for Rare Bone DiseasesLI GuozhuangXU KexinWU ZhihongZHANG JianguoQIU GuixingWU NanDeep 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.https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.04.002phenotypedeep phenotypingrare bone diseasesclinical geneticsprecision medicine |
| spellingShingle | LI Guozhuang XU Kexin WU Zhihong ZHANG Jianguo QIU Guixing WU Nan The Role of Deep Phenotyping of Precision Medicine for Rare Bone Diseases 罕见病研究 phenotype deep phenotyping rare bone diseases clinical genetics precision medicine |
| title | The Role of Deep Phenotyping of Precision Medicine for Rare Bone Diseases |
| title_full | The Role of Deep Phenotyping of Precision Medicine for Rare Bone Diseases |
| title_fullStr | The Role of Deep Phenotyping of Precision Medicine for Rare Bone Diseases |
| title_full_unstemmed | The Role of Deep Phenotyping of Precision Medicine for Rare Bone Diseases |
| title_short | The Role of Deep Phenotyping of Precision Medicine for Rare Bone Diseases |
| title_sort | role of deep phenotyping of precision medicine for rare bone diseases |
| topic | phenotype deep phenotyping rare bone diseases clinical genetics precision medicine |
| url | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.04.002 |
| work_keys_str_mv | AT liguozhuang theroleofdeepphenotypingofprecisionmedicineforrarebonediseases AT xukexin theroleofdeepphenotypingofprecisionmedicineforrarebonediseases AT wuzhihong theroleofdeepphenotypingofprecisionmedicineforrarebonediseases AT zhangjianguo theroleofdeepphenotypingofprecisionmedicineforrarebonediseases AT qiuguixing theroleofdeepphenotypingofprecisionmedicineforrarebonediseases AT wunan theroleofdeepphenotypingofprecisionmedicineforrarebonediseases AT liguozhuang roleofdeepphenotypingofprecisionmedicineforrarebonediseases AT xukexin roleofdeepphenotypingofprecisionmedicineforrarebonediseases AT wuzhihong roleofdeepphenotypingofprecisionmedicineforrarebonediseases AT zhangjianguo roleofdeepphenotypingofprecisionmedicineforrarebonediseases AT qiuguixing roleofdeepphenotypingofprecisionmedicineforrarebonediseases AT wunan roleofdeepphenotypingofprecisionmedicineforrarebonediseases |