| [1] |
The Lancet Diabetes Endocrinology. Rare diseases: individually rare, collectively common[J]. Lancet Diabetes Endocrinol, 2023, 11(3): 139. DOI: 10.1016/S2213-8587(23)00042-6. |
| [2] |
Global Genes. Rare diseases impact morepeople than cancer and AIDS combined [EB/OL]．(2020-12-13) [2024-09-30].
URL
|
| [3] |
Zhao H, Du C, Yang G, et al. Diagnosis, treatment, and research status of rare diseases related to birth defects[J]. Intractable Rare Dis Res, 2023, 12(3): 148-160. DOI: 10.5582/irdr.2023.01052.
|
| [4] |
Blin O, Lefebvre MN, Rascol O, et al. Orphan drug clinical development[J]. Therapie, 2020, 75(2): 141-147. DOI: 10.1016/j.therap.2020.02.004.
|
| [5] |
Hurvitz N, Azmanov H, Kesler A, et al. Establishing a second-generation artificial intelligence-based system for improving diagnosis, treatment, and monitoring of patients with rare diseases[J]. Eur J Hum Genet, 2021, 29, 1485-1490. DOI: 10.1038/s41431-021-00928-4.
|
| [6] |
|
| [7] |
Merker JD, Wenger AM, Sneddon T, et al. Long-read genome sequencing identifies causal structural variation in a Mendelian disease[J]. Genet Med, 2018, 20(1): 159-163. DOI: 10.1038/gim.2017.86.
|
| [8] |
Wenger AM, Peluso P, Rowell W, et al. Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome[J]. Nat Biotechnol, 2019, 37(10): 1155-1162. DOI: 10.1038s41587-019-0217-9.
|
| [9] |
|
| [10] |
Manickam K, Mcclain MR, Demmer LA, et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) [J]. Genet Med, 2021, 23(11): 2029-2037. DOI: 10.1038/s41436-021-01242-6.
|
| [11] |
Tesi B, Boileau C, Boycott KM, et al. Precision medicine in rare diseases: what is next? [J]. J Intern Med, 2023, 294(4): 397-412. DOI: 10.1111/joim.13655.
|
| [12] |
|
| [13] |
|
| [14] |
|
| [15] |
Lanar S, Acquadro C, Seaton J, et al. To what degree are orphan drugs patient-centered? A review of the current state of clinical research in rare diseases[J]. Orphanet J Rare Dis, 2020, 15(1): 134. DOI: 10.1186/s13023-020-01400-0.
|
| [16] |
Visibelli A, Roncaglia B, Spiga O, et al. The impact of artificial intelligence in the odyssey of rare diseases[J]. Biomedicines, 2023, 11(3): 887. DOI: 10.3390/biomedicines11030887.
|
| [17] |
Zeng T, Li YI. Predicting RNA splicing from DNA sequence using pangolin[J]. Genome Biol, 2022, 23: 103. DOI: 10.1186/s13059-022-02664-4.
|
| [18] |
|
| [19] |
Kingsmore SF. Dispatches from biotech beginning begin NGS: rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey[J]. Am J Med Genet C Semin Med Genet, 2022, 190(2): 243-256. DOI: 10.1002/ajmg.c.32005.
|
| [20] |
Bick D, Bick SL, Dimmock DP, et al. An online compendium of treatable genetic disorders[J]. Am J Med Genet, 2021, 187(1): 48-54. DOI: 10.1002/ajmg.c.31874.
|
| [21] |
Pagliai G, Dinu M, Fiorillo C, et al. Modulation of gut microbiota through nutritional interventions in Behξet′s syndrome patients (the MAMBA study): study protocol for a randomized controlled trial[J]. Trials, 2020, 21(1): 511. DOI: 10.1186/s13063-020-04444-6.
|
| [22] |
|
| [23] |
Morin G, Canaud G. Treatment strategies for mosaic overgrowth syndromes of the PI3K-AKT-mTOR pathway[J]. Br Med Bull, 2021, 140(1): 36-49. DOI: 10.1093/bmb/ldab023.
|
| [24] |
Foksinska A, Crowder CM, Crouse AB, et al. The precision medicine process for treating rare disease using the artificial intelligence tool mediKanren[J]. Front Artif Intell, 2022, 5: 910216. DOI: 10.3389/frai.2022.910216.
|
| [25] |
Cao H, Zhang L, Jin B, et al. Enriching limited information on rare diseases from heterogeneous networks for drug repositioning[J]. BMC Med Inform Decis Mak, 2021, 21(Suppl 9): 304. DOI: 10.1186/s12911-021-01664-x.
|
| [26] |
|
| [27] |
叶清，刘迅，周晓梅，等. 健康医疗大数据应用存在的问题及对策探讨[J]. 中国医院管理，2022, 42(1): 83-85.
|
| [28] |
|
| [29] |
Yamada DB, Bernardi FA, Miyoshi NS, et al. Ontology-based inference for supporting clinical decisions in mental health[C]// Krzhizhanovskaya VV. Computational science-ICCS 2020. Berli: Springer, 2020: 363-375. DOI: 10.1007/978-3-030-50423-6_27.
|
| [30] |
|
| [31] |
|
| [32] |
Bellgard MI, Snelling T, McGree JM. RD-RAP: beyond rare disease patient registries, devising a comprehensive data and analytic framework[J]． Orphanet J Rare Dis, 2019, 14(1): 176. DOI: 10.1186/s13023-019-1139-9.
|
| [33] |
|