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Network analysis for estimating standardization trends in genomics using MEDLINE.

Eun Bit Bae1,2, Sejin Nam3, Sungin Lee1

  • 1Institute of Quantum Biophysics, Sungkyunkwan University, 16419, Seoul, Gyeonggi-do, Republic of Korea.

BMC Medical Research Methodology
|October 7, 2022
PubMed
Summary
This summary is machine-generated.

Standardization in clinical genomics is crucial for interoperability. This study analyzes trends, revealing increasing focus on gene types, analysis techniques, and oncology, highlighting key areas for future standardization efforts.

Keywords:
Genomic sequenceGenomicsKeyword analysisNetwork analysisPubMedStandard

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Area of Science:

  • Genomics
  • Clinical Diagnostics
  • Biotechnology Standards

Background:

  • Genomic technologies like sequencing and gene quantification software are increasingly used in clinical settings.
  • A lack of applicable standards hinders interoperability and reusability of these technologies.
  • Standardization is essential for reliable and widespread clinical genomics applications.

Purpose of the Study:

  • To visualize and identify trends in clinical genomics standardization.
  • To pinpoint critical areas for future standardization efforts in clinical genetics.

Main Methods:

  • Bibliometric analysis of 16,538 articles from 1975-2020 using keywords 'genomics and standard' and 'clinical genomic sequence and standard'.
  • Analysis included network analysis, period analysis across five phases, statistical analysis, and content analysis of extracted terms.
  • Keywords were extracted from 15,855 relevant articles.

Main Results:

  • A significant increasing trend in clinical genomics standardization research was observed starting in 2003, coinciding with the Human Genome Project completion.
  • Content analysis revealed increased focus on gene types and analysis techniques during Phase 3, linked to the FDA's approval of next-generation sequencers.
  • Oncology-relevant terms dominated Phase 4 (2017-2019), contributing to the upward trend. Statistical analysis showed significance in Genetics terminology in Phase 4.

Conclusions:

  • Comprehensive trend analysis identified key shifts and high-demand areas for standardization in clinical genetics.
  • The study provides insights into the evolution of standardization needs in response to technological advancements and clinical applications.
  • Recommendations are implicitly suggested by highlighting areas of increasing research focus and clinical relevance.