Evidence map›Paper›PMID 35748697›Full record

ArticleBioinformatics (Oxford, England)2022

XSI-a genotype compression tool for compressive genomics in large biobanks.

Rick Wertenbroek, Simone Rubinacci, Ioannis Xenarios, Yann Thoma, Olivier Delaneau

Abstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing 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

14 citing papers in PubMed.

  1. Article
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  5. Enhancing Data Compression: Recent Innovations in LZ77 Algorithms.Journal of computational biology : a journal of computational molecular cell biology · 2025
    Review
  6. Analysis-ready VCF at Biobank scale using Zarr.bioRxiv : the preprint server for biology · 2025
    Article
  7. Article
  8. Article
  9. IGD: a simple, efficient genotype data format.Bioinformatics advances · 2025
    Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. 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

5 authors.

Rick WertenbroekSchool of Management and Engineering Vaud (HEIG-VD), HES-SO University of Applied Sciences and Arts Western Switzerland, Yverdon-les-Bains 1401, Switzerland.ORCID 0000-0003-4114-6615
Simone RubinacciDepartment of Computational Biology, University of Lausanne, Lausanne 1015, Switzerland.
Ioannis XenariosDepartment of Computational Biology, University of Lausanne, Lausanne 1015, Switzerland.
Yann ThomaSchool of Management and Engineering Vaud (HEIG-VD), HES-SO University of Applied Sciences and Arts Western Switzerland, Yverdon-les-Bains 1401, Switzerland.
Olivier DelaneauDepartment of Computational Biology, University of Lausanne, Lausanne 1015, Switzerland.

Funding

Medical Research Council MC_PC_17228Medical Research Council MC_QA137853School of Management and Engineering Vaud (HEIG-VD) SNSF-PP00P3_176977
6 · The paper itself

Abstract

motivationGeneration of genotype data has been growing exponentially over the last decade. With the large size of recent datasets comes a storage and computational burden with ever increasing costs. To reduce this burden, we propose XSI, a file format with reduced storage footprint that also allows computation on the compressed data and we show how this can improve future analyses.

resultsWe show that xSqueezeIt (XSI) allows for a file size reduction of 4-20× compared with compressed BCF and demonstrate its potential for 'compressive genomics' on the UK Biobank whole-genome sequencing genotypes with 8× faster loading times, 5× faster run of homozygozity computation, 30× faster dot products computation and 280× faster allele counts. AVAILABILITY AND IMPLEMENTATION: The XSI file format specifications, API and command line tool are released under open-source (MIT) license and are available at https://github.com/rwk-unil/xSqueezeIt. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Indexed as

Data CompressionSoftwareBiological Specimen BanksGenomicsGenotype

Identifiers

PMID35748697
PMCPMC9344850

What OpenQuestion holds

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LicenceCC BY
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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.