Genetic Variation Formats (VCF)

Provides a text file format for storing genetic variation data

As the field of genomics progresses, it is vital to represent new knowledge gained by researchers in a clear, unambiguous way. Maintained by the GA4GH Large Scale Genomics (LSG) Work Stream, the Variant Call Format (VCF) is a flexible text file format for representing genomic variation. Using data compression, VCF stores information efficiently, facilitating data transfer and collaboration. 

This project has two teams. Daniel Cameron and James Bonfield lead a group focused on the maintenance of the specification, and Albert Vernon Smith leads a group focused on scaling VCF through the Future of VCF working group.

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Benefits

  • Provides an efficient, compressed way of storing variant data

Target users

Researchers, and data custodians

Image summary: VCF stores information on genetic variants, a crucial step in identifying genetic causes of human health and disease.
THEME
CATEGORY
TYPE
STATUS
Work Stream
LATEST VERSION
Product Leads
  • Daniel Cameron
  • James Bonfield
  • Albert Smith
Staff Contact
Tools & Platforms

Community resources

Dive deeper into this product! Genomic data formats must advance alongside genomics, representing new kinds of data and information. VCF is a text file format for storing genetic variation data. The format consists of data lines describing a variant’s position on the genome. VCF can encode small variants such as single nucleotide polymorphisms (SNPs), short insertions and deletions (indels), as well as larger chromosomal rearrangements and larger indels.


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Title

Info

Title

Info

Repeat

Day

Time

Duration

This group meets to discuss all GA4GH File Formats maintained by the Large-Scale Genomics Work Stream: SAM/BAM/CRAM and VCF/BCF.

Every Two Months
Tuesday
00:00 UTC
1 Hour

This group meets to discuss all GA4GH File Formats maintained by the Large-Scale Genomics Work Stream: SAM/BAM/CRAM and VCF/BCF.

Every Two Months
Tuesday
20:00 UTC
1 Hour

This group meets to discuss scaling issues related to the Variant Call File format, VCF.

Every Two Months
Monday
13:00 UTC
1 Hour

This group meets to discuss scaling issues related to the Variant Call File format, VCF.

Every Two Months
Monday
21:00 UTC
1 Hour

Date

Version

28 Jun 2024
27 Jan 2023
1 Oct 2015
N.A.
N.A.

Title

Related Driver Projects and Organisations

Don't see your name? Get in touch:

  • Michael Baudis
    University of Zurich
  • James Bonfield
    Wellcome Sanger Institute (WSI)
  • Daniel Cameron
    Walter and Eliza Hall Institute of Medical Research
  • Timothe Cezard
    EMBL's European Bioinformatics Institute (EBI)
  • Robert Davies
    Wellcome Sanger Institute (WSI)
  • Richard Durbin
    University of Cambridge
  • Yossi Farjoun
    Lady Davis Institute
  • Mallory Freeberg
    EMBL's European Bioinformatics Institute (EBI)
  • Kais Ghedira
    Institut Pasteur de Tunis
  • Ammar Husami
    Cincinnati Children's Hospital Medical Center
  • John Marshall
    University of Glasgow
  • Martin Pollard
    Wellcome Sanger Institute (WSI)
  • Albert Smith
    University of Michigan
  • Jing Su
    Wellcome Sanger Institute (WSI)
  • Ziying Yang
    University of Zurich

News, events, and more

Catch up with all news and articles associated with Genetic Variation Formats (VCF).

8 Sep 2023
Scaling VCF for a genomic revolution
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A woman is looking at an uncertain test result.
3 Jun 2022
How a bot beamed from California to Japan may stop unnecessary mastectomies for breast cancer patients
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8 Jul 2021
GA4GH standards in a global learning health system
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