[1] 谷景亮, 鲁艳芹, 钟彩霞, 等. 国外罕见病药物政策发展现状对比分析[J]. 卫生软科学, 2013, 27(7):393-396. Gu Jingliang, Lu Yanqin, Zhong Caixia, et al. Comparative analysis to rare disease pharmaceutical policy development status in foreign coun-tries[J]. Soft Science of Health, 2013, 27(7):393-396.
[2] Keiser M J, Setola V, Irwin J J, et al. Predicting new molecular targets for known drugs[J]. Nature, 2009, 462(7270):175-181.
[3] Nidhi N, Glick M, Davies J W, et al. Prediction of biological targets for compounds using multiple-category bayesian models trained on che-mogenomics databases[J]. Journal of Chemical Information & Modeling, 2006, 46(3):1124-1133.
[4] Cheng T, Li Q, Wang Y, et al. Identifying compound-target associa-tions by combining bioactivity profile similarity search and public data-bases mining[J]. Journal of Chemical Information and Modeling, 2011, 51(9):2440-2448.
[5] Zhao S, Li S. Network-based relating pharmacological and genomic spaces for drug target identification[J]. PloS One, 2010, 5(7):e11764.
[6] Nölting S, Grossman A B. Signaling pathways in pheochromocytomas and paragangliomas:Prospects for future therapies[J]. Endocrine Pathol-ogy, 2012, 23(1):21-33.
[7] Björklund P, Pacak K, Crona J. Precision medicine in pheochromocyto-ma and paraganglioma:Current and future concepts[J]. Journal of Inter-nal Medicine, 2016, 280(6):559-573.
[8] Castro-Vega L J, Letouzé E, Burnichon N, et al. Multi-omics analysis defines core genomic alterations in pheochromocytomas and paraganglio-mas[J]. Nature Communications, 2015, 6:6044.
[9] Abifadel M, Varret M, Rabès J P, et al. Mutations in PCSK9 cause auto-somal dominant hypercholesterolemia[J]. Nature Genetics, 2003, 34(2):154-156.
[10] Baker G A, Bromley R L, Briggs M, et al. IQ at 6 years after in utero exposure to antiepileptic drugs A controlled cohort study[J]. Neurolo-gy, 2015, 84(4):382-390.
[11] Novac N. Challenges and opportunities of drug repositioning[J]. Trends in Pharmacological Sciences, 2013, 34(5):267-272.
[12] 田苗, 田红, 解学星, 等. 罕见病用药现状分析[J]. 现代药物与临床, 2014, 29(7):701-707. Tian Miao, Tian Hong, Xie Xuexing, et al. The development of orphan drugs[J]. Drugs & Clinic, 2014, 29(7):701-707.
[13] Xu R, Wang Q Q. PhenoPredict:A disease phenome-wide drug reposi-tioning approach towards schizophrenia drug discovery[J]. Journal of Biomedical Informatics, 2015, 56:348-355.
[14] Denny J C, Bastarache L, Ritchie M D, et al. Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data[J]. Nature Biotechnology, 2013, 31(12):1102-1111.
[15] Aronson A R, Lang F M. An overview of MetaMap:historical perspec-tive and recent advances[J]. Journal of the American Medical Informat-ics Association, 2010, 17(3):229-236.
[16] Rastegarmojarad M, Ye Z, Kolesar J M, et al. Opportunities for drug repositioning from phenome-wide association studies[J]. Nature Bio-technology, 2015, 33(4):342-345.
[17] MacArthur D G, Balasubramanian S, Frankish A, et al. A systematic survey of loss-of-function variants in human protein-coding genes[J]. Science, 2012, 335(6070):823-828.
[18] 1000 Genomes Project Consortium. A global reference for human ge-netic variation[J]. Nature, 2015, 526(7571):68-74.
[19] Maaroufi M, Choquet R, Landais P, et al. Towards data integration au-tomation for the French rare disease registry[C]//AMIA Annual Sympo-sium Proceedings. Bethesda:American Medical Informatics Associa-tion, 2015, 2015:880.
[20] Roy A J, Van den Bergh P, Van Damme P, et al. Early stages of build-ing a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR)[J]. Acta Neurologica Belgi-ca, 2015, 115(2):97-104.
[21] Tattersfield A E, Glassberg M K. Lymphangioleiomyomatosis:A nation-al registry for a rare disease.[J]. American Journal of Respiratory & Critical Care Medicine, 2006, 173(1):2-4.
[22] Nagel G, Ünal H, Rosenbohm A, et al. Implementation of a popula-tion-based epidemiological rare disease registry:Study protocol of the amyotrophic lateral sclerosis (ALS)-registry Swabia[J]. BMC Neurolo-gy, 2013, 13(1):22.
[23] 冯时, 弓孟春, 张抒扬. 中国国家罕见病注册系统及其队列研究:愿景与实施路线[J]. 中华内分泌代谢杂志, 2016, 32(12):977-982. Feng Shi, Gong Mengchun, Zhang Shuyang. The national rare diseases registry system of China and the related cohort studies:Vision and roadmap[J]. Chinese Journal of Endocrinology and Metabolism, 2016, 32(12):977-982.
[24] 郭奕斌, 李荣. 罕见遗传性骨病大家系调查[J]. 中华骨科杂志, 2014(8):880-882. Guo Yibin, Li Rong. Rare hereditary bone disease family survey[J]. Chinese Journal of Orthopaedics, 2014(8):880-882.
[25] Johnston L, Thompson R, Turner C, et al. The impact of integrated omics technologies for patients with rare diseases[J]. Expert Opinion on Orphan Drugs, 2014, 2(11):1211-1219.
[26] 谢兵兵, 杨亚东, 丁楠,等. 整合分析多组学数据筛选疾病靶点的精准医学策略[J]. 遗传, 2015, 37(7):655-663. Xie Bingbing, Yang Yadong, Ding Nan, et al. Identification of disease targets for precision medicine by integrative analysis of multi-omics data[J]. Hereditas, 2015, 37(7):655-663.
[27] Yoon S H, Han M J, Jeong H, et al. Comparative multi-omics systems analysis of Escherichia coli strains B and K-12[J]. Genome biology, 2012, 13(5):R37.
[28] Zhang W, Liu Y, Sun N, et al. Integrating genomic, epigenomic, and transcriptomic features reveals modular signatures underlying poor prognosis in ovarian cancer[J]. Cell Reports, 2013, 4(3):542-553.
[29] 王锋. 基于稀疏偏最小二乘算法的生物组学数据融合算法研究[D]. 长春:吉林大学, 2012. Wang Feng. Research into biological omics datasets integration based on sparse partial least-square algorithm[D]. Changchun:Jinlin Univer-sity, 2012.
[30] 李昀泽. 基于潜在语义分析的病历文本挖掘应用研究[D]. 杭州:浙江大学, 2015. Li Yunze. Research and apply on patient record text mining based on latent semantic analysis[D]. Hangzhou:Zhejiang University, 2015.
[31] Ananiadou S, Kell D B, Tsujii J. Text mining and its potential applica-tions in systems biology[J]. Trends in Biotechnology, 2006, 24(12):571-579.
[32] 史航, 高雯珺, 崔雷. 生物医学文本挖掘研究热点分析[J]. 中华医学图书情报杂志, 2016, 25(2):27-33. Shi Hang, Gao Wenjun, Cui Lei. Hotspots in text mining of biomedial field[J]. Chinese Journal of Medical Library and Information Science, 2016, 25(2):27-33.
[33] Huang M, Zhu X, Hao Y, et al. Discovering patterns to extract pro-tein-protein interactions from full texts[J]. Bioinformatics, 2004, 20(18):3604-3612.
[34] Hao Y, Zhu X, Huang M, et al. Discovering patterns to extract pro-tein-protein interactions from the literature:Part Ⅱ[J]. Bioinformatics, 2005, 21(15):3294-3300.
[35] Huang M, Zhu X, Li M. A hybrid method for relation extraction from biomedical literature[J]. International Journal of Medical Informatics, 2006, 75(6):443-455.
[36] 龚凡, 王梦婕, 阮彤, 等. 电子病历文本症状自动识别方法[J]. 医学信息学杂志, 2016, 37(7):7-14. Gong Fan, Wang Mengjie, Ruan Tong, et al. Automatic recognition methods of symptoms in texts of electronic medical records[J]. Journal of Medical Intelligence, 2016, 37(7):7-14.
[37] Polajnar T. Survey of text mining of biomedical corpora[J].[2009-08-20]. http://www.brc.des.gla.ac.uk/tamara/surveyoftm.pdf, 2006.
[38] 柴华, 路海明, 刘清晨. 中医自然语言处理研究方法综述[J]. 医学信息学杂志, 2015, 36(10):58-63. Chai Hua, Lu Haiming, Liu Qingchen. Overview of Research Methods for Natural Language Processing in Traditional Chinese Medicine[J]. Journal of Medical Informatics, 2015, 36(10):58-63.
[39] Ohno-Machado L. Data and the clinical decision support loop[J]. Jour-nal of the American Medical Informatics Association, 2016, 23(e1):e1.
[40] Lang R D. In search of the missing link:Data access and the next gen-eration of CDSS[J]. Journal of Healthcare Information Management, 2002, 16(4):2.
[41] Bietz M J, Bloss C S, Calvert S, et al. Opportunities and challenges in the use of personal health data for health research[J]. Journal of the American Medical Informatics Association, 2015, 23(e1):e42-e48.
[42] Hintzsche J, Kim J, Yadav V, et al. IMPACT:a whole-exome sequenc-ing analysis pipeline for integrating molecular profiles with actionable therapeutics in clinical samples[J]. Journal of the American Medical Informatics Association, 2016, 23(4):721-730.
[43] 杨春华, 王天津, 黄思敏,等. 支持精准医疗的国外临床决策支持系统[J]. 中华医学图书情报杂志, 2016, 25(2):14-19. Yang Chunhua, Wang Tianjin, Huang Simin, et al. Precision medi-cine-oriented clinical decision supporting system in foreign countries[J]. Chinese Journal of Medical Library and Information Science, 2016, 25(2):14-19.
