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v1.1.4 - GATK-compatible Validator

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@jorgeMFS jorgeMFS released this 18 Dec 18:48

New Features

VCFX_validator now includes comprehensive GATK-compatible validation checks:

  • ALT allele observation (ALLELES validation) - warns when ALT alleles are not observed in any sample genotype
  • Empty VCF detection - header-only files now fail by default (use --allow-empty to override)
  • Header Type/Number validation - validates INFO/FORMAT field definitions
  • Variant sorting check - ensures records are sorted by CHROM and POS (disable with -S)
  • AN/AC consistency - validates allele count consistency in strict mode (CHR_COUNTS)
  • REF validation - check REF alleles against FASTA reference (-R)
  • dbSNP ID validation - validate variant IDs against dbSNP (-D)
  • GVCF validation - GVCF-specific format checks (-g)
  • New -i/--input flag - explicit mmap file input option

Performance

  • Maintained ~110 MB/s throughput with all new validations enabled
  • 1.26x faster than bcftools for validation on benchmark dataset

Full Changelog

See CHANGELOG.md for details.