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Sanger DNA sequencing quality assessment in clinical settings is often empirical. This study proposes a simple, practical method using three key parameters to accurately determine sequence quality, even with complex genetic variations.

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Area of Science:

  • Molecular Biology
  • Genetics
  • Clinical Diagnostics

Background:

  • Sanger DNA sequencing remains vital for clinical practice but faces routine data quality challenges.
  • Current quality assessment methods are often empirical, lack clear guidelines, and are overly complex for daily clinical use.
  • Existing approaches use multiple parameters, hindering practical application in routine diagnostics.

Purpose of the Study:

  • To address the lack of standardized and practical quality assessment for Sanger DNA sequencing in clinical settings.
  • To develop a simplified yet accurate method for evaluating Sanger sequence data quality.
  • To provide a reliable approach for quality control in clinical sequencing applications.

Main Methods:

  • Heuristic analysis of approximately 46,000 Sanger sequencing traces.
  • Evaluation of sequence quality based on a combination of average quality value, average sequence intensity, and electropherogram profile.
  • Development of a decision-making table and diagram for practical quality determination.

Main Results:

  • A combination of three basic parameters (average quality value, average sequence intensity, electropherogram profile) is sufficient for accurate quality assessment.
  • The proposed method effectively determines sequence quality even in the presence of deletions, insertions, and repeat regions.
  • The analysis of 46,000 traces validated the robustness of the chosen parameters.

Conclusions:

  • A simple, practical, and accurate method for Sanger DNA sequencing quality determination is proposed for clinical use.
  • The developed method simplifies quality control, making it suitable for routine clinical applications.
  • This approach enhances the reliability of Sanger sequencing data in clinical diagnostics by providing clear quality benchmarks.