Evidence map›Paper›PMID 35811804›Full record

ArticleF1000Research2022

Recommendations for the formatting of Variant Call Format (VCF) files to make plant genotyping data FAIR.

Sebastian Beier, Anne Fiebig, Cyril Pommier, Isuru Liyanage, Matthias Lange, Paul J Kersey, Stephan Weise, Richard Finkers, Baron Koylass, Timothee Cezard and 5 more

Abstract read
In one paragraph

Article in F1000Research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing 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

7 citing papers in PubMed.

  1. Article
  2. Article
  3. Order from entropy: big data from FAIR data cohorts in the digital age of plant breeding.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2025
    Review
  4. Article
  5. Article
  6. Article
  7. On the way to plant data commons - a genotyping use case.Journal of integrative bioinformatics · 2022
    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

15 authors.

Sebastian BeierBreeding Research, Leibniz Institute of Plant Genetics and Crop Plant Research (IPK) Gatersleben, Seeland, 06466, Germany.ORCID 0000-0002-2177-8781
Anne FiebigBreeding Research, Leibniz Institute of Plant Genetics and Crop Plant Research (IPK) Gatersleben, Seeland, 06466, Germany.ORCID 0000-0003-3159-3593
Cyril PommierBioinfOmics, Plant bioinformatics facility, Université Paris-Saclay, INRAE, Versailles, France.ORCID 0000-0002-9040-8733
Isuru LiyanageEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, UK.ORCID 0000-0002-4839-5158
Matthias LangeBreeding Research, Leibniz Institute of Plant Genetics and Crop Plant Research (IPK) Gatersleben, Seeland, 06466, Germany.ORCID 0000-0002-4316-078X
Paul J KerseyRoyal Botanic Gardens, Kew, Richmond, UK.
Stephan WeiseBreeding Research, Leibniz Institute of Plant Genetics and Crop Plant Research (IPK) Gatersleben, Seeland, 06466, Germany.ORCID 0000-0003-4031-9131
Richard FinkersPlant Breeding, Wageningen University & Research, Wageningen, The Netherlands.ORCID 0000-0002-4368-8058
Baron KoylassEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, UK.ORCID 0000-0002-1187-8148
Timothee CezardEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, UK.ORCID 0000-0002-5626-270X
Mélanie CourtotEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, UK.ORCID 0000-0002-9551-6370
Bruno Contreras-MoreiraLaboratorio de Biología Computacional y Estructural, Estación Experimental Aula Dei-CSIC, Zaragoza, 50059, Spain.ORCID 0000-0002-5462-907X
Guy NaamatiEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, UK.
Sarah DyerEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, UK.
Uwe ScholzBreeding Research, Leibniz Institute of Plant Genetics and Crop Plant Research (IPK) Gatersleben, Seeland, 06466, Germany.ORCID 0000-0001-6113-3518

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In this opinion article, we discuss the formatting of files from (plant) genotyping studies, in particular the formatting of metadata in Variant Call Format (VCF) files. The flexibility of the VCF format specification facilitates its use as a generic interchange format across domains but can lead to inconsistency between files in the presentation of metadata. To enable fully autonomous machine actionable data flow, generic elements need to be further specified. We strongly support the merits of the FAIR principles and see the need to facilitate them also through technical implementation specifications. They form a basis for the proposed VCF extensions here. We have learned from the existing application of VCF that the definition of relevant metadata using controlled standards, vocabulary and the consistent use of cross-references via resolvable identifiers (machine-readable) are particularly necessary and propose their encoding. VCF is an established standard for the exchange and publication of genotyping data. Other data formats are also used to capture variant data (for example, the HapMap and the gVCF formats), but none currently have the reach of VCF. For the sake of simplicity, we will only discuss VCF and our recommendations for its use, but these recommendations could also be applied to gVCF. However, the part of the VCF standard relating to metadata (as opposed to the actual variant calls) defines a syntactic format but no vocabulary, unique identifier or recommended content. In practice, often only sparse descriptive metadata is included. When descriptive metadata is provided, proprietary metadata fields are frequently added that have not been agreed upon within the community which may limit long-term and comprehensive interoperability. To address this, we propose recommendations for supplying and encoding metadata, focusing on use cases from plant sciences. We expect there to be overlap, but also divergence, with the needs of other domains.

Indexed as

MetadataSoftwareGenotypedata managementELIXIRFAIRgenotypingphenotypingplantsnpvcf

Identifiers

PMID35811804
PMCPMC9218589

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.