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Sample tracking in whole exome sequencing.

Xunhong Yang1, Zhilong Li2, Benyang Xiao1

  • 1Department of Medical Genetics/ Prenatal Diagnostic Center, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, West China Second University Hospital, West China School of Basic Medical Sciences & Forensic Medicine, Sichuan University, Chengdu, Sichuan 610041, PR China.

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|November 12, 2025
PubMed
Summary
This summary is machine-generated.

Whole exome sequencing (WES) is vital for rare disease and tumor research but faces challenges. This review explores quality controls for robust sample tracking and traceability to ensure accurate WES results.

Keywords:
Quality controlSample trackingWhole exome sequencing

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Area of Science:

  • Genomics and Bioinformatics
  • Clinical Diagnostics
  • Quality Control in Molecular Biology

Background:

  • Whole exome sequencing (WES) is a powerful tool for diagnosing rare diseases, studying tumors, and discovering novel genes due to its efficiency and high resolution.
  • Despite its utility, WES is susceptible to challenges in sample processing, experimental manipulation, and data management, leading to potential sample misidentification and impacting research integrity and clinical outcomes.

Purpose of the Study:

  • To review robust sample tracking and traceability quality controls essential for ensuring the accuracy and reliability of whole exome sequencing (WES) results.
  • To discuss the importance of standardized quality control systems, including testing, bioinformatics, and genetic methods, in preventing errors in WES.
  • To highlight the role of unified quality control systems, as advocated by organizations like the American College of Medical Genetics and Genomics, in mitigating sample mix-ups and erroneous results.

Main Methods:

  • Literature review focusing on WES-associated quality control measures.
  • Exploration of testing quality control systems, bioinformatics approaches, and genetic methods for sample tracking and traceability.
  • Discussion of recommendations from authoritative bodies for standardized WES quality control.

Main Results:

  • Various challenges in WES workflow can lead to misidentification issues, affecting research and clinical outcomes.
  • Robust sample tracking and traceability are crucial for ensuring the accuracy and reliability of WES data.
  • Standardized quality control systems and unified approaches are necessary to prevent errors and optimize WES applications.

Conclusions:

  • Implementing standardized processes and advanced genetic testing methods can fortify the WES workflow against errors.
  • Adherence to unified quality control systems is pivotal for enhancing the integrity and reliability of WES in clinical and research settings.
  • Further technological advancements are needed to optimize WES applications and ensure accurate genetic testing.