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SeqControl: process control for DNA sequencing.

Lauren C Chong1, Marco A Albuquerque1, Nicholas J Harding1

  • 1Informatics &Biocomputing Platform, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.

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|September 1, 2014
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Summary
This summary is machine-generated.

SeqControl predicts sequencing quality and coverage using 15 metrics. This framework accurately forecasts sequencing needs and classifies samples, optimizing high-throughput sequencing for clinical applications.

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Area of Science:

  • Genomics
  • Bioinformatics
  • Computational Biology

Background:

  • High-throughput sequencing is advancing rapidly, necessitating robust quality control for clinical and industrial use.
  • Optimizing sequencing output and reducing costs are critical in production settings.
  • Existing quality monitoring methods may not be sufficient for large-scale sequencing operations.

Purpose of the Study:

  • To develop a predictive framework, SeqControl, for monitoring and controlling sequencing quality and coverage.
  • To establish multivariate models for predicting sequencing outcomes based on key metrics.
  • To enable real-time quality assessment in high-throughput sequencing pipelines.

Main Methods:

  • Developed SeqControl, a framework utilizing 15 metrics (coverage, distribution, base-wise quality).
  • Derived multivariate models using whole-genome sequences from 27 prostate cancer and 26 normal samples.
  • Validated SeqControl's predictive accuracy for sequencing depth and sample classification.

Main Results:

  • SeqControl accurately predicted required sequencing for desired coverage depth (AUC = 0.993).
  • The framework successfully classified clinically relevant formalin-fixed, paraffin-embedded samples.
  • Predictions were reliable even with limited data (e.g., one-eighth of a sequencing lane, AUC = 0.967).

Conclusions:

  • SeqControl provides a robust method for real-time sequencing quality and coverage monitoring.
  • The framework can be integrated into existing pipelines to enhance efficiency and reduce costs.
  • SeqControl supports the routine clinical and industrial application of high-throughput sequencing.