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BGEN

Definition
AI-generated

BGEN is a binary file format (Oxford / UK Biobank style) for storing large-scale genotype or imputed-dosage data compactly, including probabilities or dosages per sample and variant.

Topics

Why it matters in GWAS

Major biobanks distribute imputed data as BGEN; workflows often convert or analyze BGEN directly with PLINK 2, Hail, or QCTOOL-compatible tools without expanding to full VCF.

Example usage

"Imputed chromosome files in BGEN 1.2 were filtered with PLINK 2 --bgen and merged for association testing."

References

  • Band G, Marchini J. (2017). BGEN format. https://www.well.ox.ac.uk/~gav/bgen_format/
  • PLINK 2.0 Oxford / BGEN: https://www.cog-genomics.org/plink/2.0/input#oxford

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