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Veronica Suaste Morales, Sheridan Houghten

    IEEE/ACM Transactions on Computational Biology and Bioinformatics
    |December 24, 2019
    PubMed
    Summary

    Lossy compression techniques for DNA sequencing data, specifically SAM files, improve CRAM compression ratios. These methods do not harm, and may even enhance, single nucleotide polymorphism (SNP) calling accuracy.

    Area of Science:

    • Genomics
    • Bioinformatics
    • Data Compression

    Background:

    • The rapid expansion of human DNA sequencing generates vast amounts of data, creating significant storage challenges.
    • Compression techniques are crucial for managing large-scale genomic datasets, particularly SAM files used in DNA alignment.

    Purpose of the Study:

    • To investigate the effectiveness of lossy compression techniques for quality values in SAM files.
    • To analyze the impact of these lossy compression methods on the CRAM file format and single nucleotide polymorphism (SNP) calling.

    Main Methods:

    • Experiments were conducted using the NA12878 dataset with varying fold coverages.
    • A novel lossy compression model, dynamic binning, was introduced and compared against existing methods (Illumina binning, LEON, QVZ).

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  • Compression ratios for CRAM files and SNP calling performance were evaluated.
  • Main Results:

    • Lossy compression techniques significantly improve the compression ratio of CRAM files.
    • The evaluated lossy techniques did not negatively impact SNP calling accuracy.
    • In some instances, lossy compression even demonstrated a potential to boost SNP calling performance.

    Conclusions:

    • Lossy compression is a viable strategy for reducing the storage footprint of genomic data in CRAM format.
    • The application of lossy compression for quality values in SAM files offers benefits without compromising essential downstream analyses like SNP calling.