Evidence map›Paper›PMID 40316539›Full record

ArticleScientific reports2025

A benchmark study of compression software for human short-read sequence data.

Raphael O Betschart, Felicia Sandberg, Stefan Blankenberg, Martin Zoche, Tanja Zeller, Andreas Ziegler

Abstract read
In one paragraph

Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Raphael O BetschartCardio-CARE, Medizincampus Davos, Herman-Burchard-Str. 12, Davos Wolfgang, 7265, Davos, Switzerland.ORCID http://orcid.org/0000-0002-0582-3861
Felicia SandbergCardio-CARE, Medizincampus Davos, Herman-Burchard-Str. 12, Davos Wolfgang, 7265, Davos, Switzerland.ORCID http://orcid.org/0000-0002-3535-5122
Stefan BlankenbergCardio-CARE, Medizincampus Davos, Herman-Burchard-Str. 12, Davos Wolfgang, 7265, Davos, Switzerland.ORCID http://orcid.org/0000-0001-6488-2362
Martin ZocheInstitute of Pathology and Molecular Pathology, University Hospital Zurich, Zurich, Switzerland.ORCID http://orcid.org/0000-0002-0421-7229
Tanja Zeller *Institute of Cardiogenetics, University of Lübeck, Lübeck, Germany. tanja.zeller@uni-luebeck.de.ORCID http://orcid.org/0000-0003-3379-2641
Andreas Ziegler *Cardio-CARE, Medizincampus Davos, Herman-Burchard-Str. 12, Davos Wolfgang, 7265, Davos, Switzerland. ziegler.lit@mailbox.org.ORCID http://orcid.org/0000-0002-8386-5397

Funding

German Center for Cardiovascular Research 81Z0710102
6 · The paper itself

Abstract

Efficient data compression technologies are crucial to reduce the cost of long-term storage and file transfer in whole genome sequencing studies. This study benchmarked four specialized compression tools developed for paired-end fastq.gz files DRAGEN ORA 4.3.4 (ORA), Genozip 15.0.62, repaq 0.3.0, and SPRING 1.1.1 using three subjects from the genome-in-a-bottle consortium that were sequenced 82 times on an Illumina NovaSeq 6000, with an average coverage of 35x. It additionally compared Genozip with SAMtools 1.20 for the compression of BAM files. All tools provided lossless compression. ORA and Genozip achieved compression ratios of approximately 1:6 when compressing fastq.gz. repaq and SPRING had lower compression ratios of 1:2 and 1:4, respectively. repaq and SPRING took longer for both compression and decompression than ORA and Genozip. Genozip had approximately 16% higher compression for BAM files than SAMtools. However, the BAM compression of SAMtools produces CRAM files, which are compatible with many software packages. ORA, repaq, and SPRING are limited to compressing fastq.gz files, while Genozip supports various file formats. Although Genozip requires an annual license, its source code is freely available, ensuring sustainability. In conclusion, paired-end short-read sequence data can be efficiently compressed using specialized compression software. Commercial tools offer higher compression ratios than freely available software.

Indexed as

Data CompressionSoftwareBenchmarkingHigh-Throughput Nucleotide SequencingHumansSequence Analysis, DNAWhole Genome SequencingBAMCRAMDNA sequencingFASTQGVCFIllumina sequencing

Identifiers

PMID40316539
PMCPMC12048562

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.