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Project in Biohackthon Europe 2023, A “batteries-included” open reference resource for human genomic copy number variants (CNV)

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ziyingyang96/vcf_importer

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vcfConverter

Convert a VCF file to a customized data structure. Developed to facilitate data conversion for the Beacon project.

Usage

The current proto version converts VCF files from the 1k genome project to the Beacon V2 specification.

User needs to privde a definition.yaml file, which describes the mapping of the desired terms and the corresponding VCF values. An example definition.yaml is proivded.

Example

from vcfConverter import vcfConverter

converter = vcfConverter(vcf_file = 'samples/HG00096.cnv.vcf')
beacon_struct = converter.convertVariants(def_file = 'definition/definition_cnv.yaml')

print(beacon_struct)

Current limitations

  • only tested on 1k genome CNV data
  • cannot customize VCF imports

To do

  • CLI
  • convert samples

Please let me know other desired functions

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Project in Biohackthon Europe 2023, A “batteries-included” open reference resource for human genomic copy number variants (CNV)

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