Abstract：
As the contribution of de novo mutations (DNMs) to human genetic diseases has been gradually uncovered, analyzing the global research landscape over the past 20 years is essential. Because of the large and rapidly increasing number of publications in this field, understanding the current landscape of the contribution of DNMs in the human genome to genetic diseases remains a challenge. Bibliometric analysis provides an approach for visualizing these studies using information in published records in a specific field. This study aimed to illustrate the current global research status and explore trends in the field of DNMs underlying genetic diseases. Bibliometric analyses were performed using the Bibliometrix Package based on the R language version 4.1.3 and CiteSpace version 6.1.R2 software for publications from 2000 to 2021 indexed under the Web of Science Core Collection (WoSCC) about DNMs underlying genetic diseases on 17 September 2022. We identified 3435 records, which were published in 731 journals by 26,538 authors from 6052 institutes in 66 countries. There was an upward trend in the number of publications since 2013. The USA, China, and Germany contributed the majority of the records included. The University of Washington, Columbia University, and Baylor College of Medicine were the top-producing institutions. Evan E Eichler of the University of Washington, Stephan J Sanders of the Yale University School of Medicine, and Ingrid E Scheffer of the University of Melbourne were the most high-ranked authors. Keyword co-occurrence analysis suggested that DNMs in neurodevelopmental disorders and intellectual disabilities were research hotspots and trends. In conclusion, our data show that DNMs have a significant effect on human genetic diseases, with a noticeable increase in annual publications over the last 5 years. Furthermore, potential hotspots are shifting toward understanding the causative role and clinical interpretation of newly identified or low-frequency DNMs observed in patients.
摘要：
随着从头突变（DNM）对人类遗传疾病的贡献逐渐被发现，分析过去20年的全球研究格局至关重要。由于该领域出版物数量庞大且迅速增加，了解目前人类基因组中DNM对遗传疾病的贡献仍然是一个挑战。文献计量分析提供了一种使用特定领域已发布记录中的信息可视化这些研究的方法。本研究旨在说明目前全球DNM相关遗传病领域的研究现状和趋势。使用基于R语言版本4.1.3和CiteSpace版本6.1的Bibliometrix软件包进行文献计量分析。用于2000年至2021年出版物的R2软件，于2022年9月17日在WebofScienceCoreCollection（WoSCC）中对DNM潜在遗传疾病进行索引。我们确定了3435条记录,由来自66个国家的6052个研究所的26538名作者在731种期刊上发表。自2013年以来，出版物数量呈上升趋势。美国,中国,德国贡献了其中的大部分记录。华盛顿大学,哥伦比亚大学,贝勒医学院是一流的生产机构。华盛顿大学的EvanEEichler,耶鲁大学医学院的StephanJSanders,墨尔本大学的IngridEScheffer是排名最高的作者。关键词共现分析表明DNM在神经发育障碍和智力障碍中的应用是研究热点和趋势。总之,我们的数据表明DNM对人类遗传疾病有显著影响，在过去的5年里，年度出版物明显增加。此外，潜在的热点正在转向理解在患者中观察到的新发现或低频DNM的致病作用和临床解释。
