Global research landscape on the contribution of de novo mutations to human genetic diseases over the past 20 years: bibliometric analysis

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.

Keywords:

• De novo mutation
• bibliometric analysis
• Web of Science
• CiteSpace
• research topics
• developmental disorder
• whole-exome sequencing

Acknowledgments

Not applicable to this section.

Author contributions

Data curation, formal analysis, investigation, writing – original draft, writing – review and editing, funding acquisition, and project administration: Jing Guan. Data curation, methodology, software, and visualization: Xiaonan Wu. Methodology, software, and visualization: Jiao Zhang. Methodology and formal analysis: Jin Li. Data curation and methodology: Hongyang Wang. Project administration and supervision: Qiuju Wang.

Disclosure statement

No potential conflict of interest was reported by the authors.

Data availability statement

All data generated or analyzed in this study are included in the published article (and its supplementary information files).

Additional information

Funding

This work was supported by grants from the National Natural Science Foundation of China (grant numbers 82271171, 81900951, 82271189, and 82222016).