NGC: lossless and lossy compression of aligned high-throughput sequencing data

作者：Popitsch Niko^*; von Haeseler Arndt

来源：Nucleic Acids Research, 2013, 41(1): e27.

DOI：10.1093/nar/gks939

A major challenge of current high-throughput sequencing experiments is not only the generation of the sequencing data itself but also their processing, storage and transmission. The enormous size of these data motivates the development of data compression algorithms usable for the implementation of the various storage policies that are applied to the produced intermediate and final result files. In this article, we present NGC, a tool for the compression of mapped short read data stored in the wide-spread SAM format. NGC enables lossless and lossy compression and introduces the following two novel ideas: first, we present a way to reduce the number of required code words by exploiting common features of reads mapped to the same genomic positions; second, we present a highly configurable way for the quantization of per-base quality values, which takes their influence on downstream analyses into account. NGC, evaluated with several real-world data sets, saves 33-66% of disc space using lossless and up to 98% disc space using lossy compression. By applying two popular variant and genotype prediction tools to the decompressed data, we could show that the lossy compression modes preserve %26gt;99% of all called variants while outperforming comparable methods in some configurations.

• 出版日期2013-1