基于2010-2019年SCI数据库文献的罕见病发展态势及前沿热点分析

Development Trend and Research Hotspots of Rare Diseases Based on SCI Database Literature From 2010 to 2019

目的了解罕见病领域研究态势及前沿热点。方法以Web of Scicen数据库中2010-2019年收录的罕见病文献为研究对象,应用文献计量学方法和Citespace和Vosviewer软件绘制知识图谱进行分析。结果符合纳入标准的7950篇文献分布于300余种期刊,2019年发文数量1104篇是2010年的2倍,研究态势整体呈现上升趋势;109个国家和地区,571个机构参与研究,得到136个基金资助,美国基金资助项目最多约占20.00%、发文量最多占总数的22.01%;"orphanet journal of rare diseases"和"plos one"期刊在罕见病研究领域影响力较大;400以上高频关键词有"diagnosis""、management"、"gene mutation"、"Children","mutation"和"human phenotype ontology"等关键词中心性最高,均大于0.15。结论欧美国家罕见病研究实力较强;基因组学和遗传学学科是罕见病理论基础和技术研究最主要的热点分布领域,借助大数据平台的细胞分子遗传和基因精准医疗技术的应用是最关注的研究热点;人类表型本体论模式构建应用,关注生命质量、提高医疗保障是研究前沿。

Objective To understand the development trends and research hotspots in the field of rare diseases.Methods The literature about rare diseases was searched in the Web of Scicen database from 2010 to 2019.The bibliometric method and Citespace and Vosviewer software are used to draw a knowledge map for analysis.Results Totally,7950 articles met the inclusion criteria and were distributed in more than 300 journals.The number of articles published in 2019 is 1104,which is twice that of 2010.The overall research trend shows an upward trend.In this field,571 institutions in 109 countries and regions participated,and received 136 funds.The US research institutions are most enthusiastic and have the most achievements.The funded projects by US account for about 20.00%of the total,and the number of publications accounted for 22.01%of the total.The journals named Orphanet Journal of Rare Diseases and PLoS One have great influence in the field of rare diseases research.Highfrequency keywords above 400 times mainly include diagnosis,management,gene mutation,and children.Keywords such as“mutation”and“human phenotype ontology”have the highest centrality,both greater than 0.15.Conclusion European and American countries have strong research strength in rare diseases.Genomics and genetics are the most important hotspots in the theoretical basis and technical research of rare diseases.With the help of big data platform,cell molecular genetics and gene technology application is the most concerned research hotspot.The construction and application of the human phenotypic ontology model,focusing on the quality of life and improving patient medical security are the research hotpots.