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Pilot study: assessment of interlaboratory variability of sequencing-based typing DNA sequence data quality.

D C Sayer1, D M Goodridge

  • 1Conexio Genomics, Fremantle, Western Australia, Australia. david@conexio.iinet.net.au

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Summary

Sequence quality scores for human leukocyte antigen typing by sequence-based typing (SBT) vary between labs. The Assign-SBT base call score (BCS) system effectively compares this sequence quality across different laboratories.

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Area of Science:

  • Immunogenetics
  • Molecular Biology
  • Clinical Diagnostics

Background:

  • Human leukocyte antigen (HLA) typing is crucial for organ transplantation and disease association studies.
  • Sequence-based typing (SBT) is a common method for high-resolution HLA allele identification.
  • Ensuring consistent sequence quality across different laboratories is essential for reliable HLA typing results.

Purpose of the Study:

  • To assess the variability of sequence quality scores in human leukocyte antigen typing using sequence-based typing (SBT) across different laboratories.
  • To evaluate the utility of the Assign-SBT base call score (BCS) system for inter-laboratory sequence quality comparison.

Main Methods:

  • Pilot study involving multiple laboratories performing human leukocyte antigen typing.
  • Utilized sequence-based typing (SBT) methodology for HLA allele identification.
  • Analyzed sequence quality scores and applied the Assign-SBT base call score (BCS) system.

Main Results:

  • Significant variability in sequence quality scores was observed both within and between participating laboratories.
  • The base call score (BCS) system demonstrated effectiveness in quantifying and comparing sequence quality across different laboratory settings.
  • Identified a need for standardized quality metrics in sequence-based HLA typing.

Conclusions:

  • Sequence quality in human leukocyte antigen typing by sequence-based typing (SBT) is not uniform across laboratories.
  • The Assign-SBT base call score (BCS) system provides a valuable tool for monitoring and standardizing sequence quality in multi-laboratory SBT workflows.
  • Implementing BCS-based quality control can enhance the reliability and comparability of HLA typing results globally.