Recommendations for the formatting of Variant Call Format (VCF) files to make plant genotyping data FAIR - Archive ouverte HAL
Article Dans Une Revue F1000Research Année : 2022

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

Sebastian Beier
Anne Fiebig
Isuru Liyanage
Matthias Lange
Paul Kersey
  • Fonction : Auteur
Stephan Weise
Richard Finkers
Baron Koylass
Timothee Cezard
Mélanie Courtot
Bruno Contreras-Moreira
Guy Naamati
  • Fonction : Auteur
Sarah Dyer
  • Fonction : Auteur
Uwe Scholz

Résumé

In this opinion article, we discuss the formatting of files from (plant) genotyping studies, in particular the formatting of (meta-) data 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. VCF files are an established standard for the exchange and publication of genotyping data. Other data formats are also used to capture variant call data (for example, the HapMap format and the gVCF format), but none currently have the reach of VCF. In VCF, only the sites of variation are described, whereas in gVCF, all positions are listed, and confidence values are also provided. For the sake of simplicity, we will only discuss VCF and our recommendations for its use. 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 (if any) 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 the plant sciences. We expect there to be overlap, but also divergence, with the needs of other domains.

Dates et versions

hal-04456815 , version 1 (14-02-2024)

Identifiants

Citer

Sebastian Beier, Anne Fiebig, Cyril Pommier, Isuru Liyanage, Matthias Lange, et al.. Recommendations for the formatting of Variant Call Format (VCF) files to make plant genotyping data FAIR. F1000Research, 2022, 11, pp.231. ⟨10.12688/f1000research.109080.1⟩. ⟨hal-04456815⟩
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