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Learn how GA4GH helps expand responsible genomic data use to benefit human health.
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
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Work Stream
LATEST VERSION
Product Leads
- Daniel Cameron
- James Bonfield
- Albert Smith
Staff Contact
Tools & Platforms
Publications
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.
Date
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Info
Date
Title
15 Dec 2023
14 Sep 2023
11 Mar 2023
11 Mar 2023
8 Dec 2020
8 Dec 2020
Australian Genomics
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
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Catch up with all news and articles associated with Genetic Variation Formats (VCF).
