CALQ: compression of quality values of aligned sequencing data.

نویسندگان

  • Jan Voges
  • Jörn Ostermann
  • Mikel Hernaez
چکیده

Motivation Recent advancements in high-throughput sequencing technology have led to a rapid growth of genomic data. Several lossless compression schemes have been proposed for the coding of such data present in the form of raw FASTQ files and aligned SAM/BAM files. However, due to their high entropy, losslessly compressed quality values account for about 80% of the size of compressed files. For the quality values, we present a novel lossy compression scheme named CALQ. By controlling the coarseness of quality value quantization with a statistical genotyping model, we minimize the impact of the introduced distortion on downstream analyses. Results We analyze the performance of several lossy compressors for quality values in terms of trade-off between the achieved compressed size (in bits per quality value) and the Precision and Recall achieved after running a variant calling pipeline over sequencing data of the well-known NA12878 individual. By compressing and reconstructing quality values with CALQ, we observe a better average variant calling performance than with the original data while achieving a size reduction of about one order of magnitude with respect to the state-of-the-art lossless compressors. Furthermore, we show that CALQ performs as good as or better than the state-of-the-art lossy compressors in terms of variant calling Recall and Precision for most of the analyzed data sets. Availability CALQ is written in C ++ and can be downloaded from https://github.com/voges/calq. Contact [email protected]. Supplementary information Supplementary Data are available at Bioinformatics online.

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عنوان ژورنال:
  • Bioinformatics

دوره   شماره 

صفحات  -

تاریخ انتشار 2017