variant-normalization

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genomics-dev / variantkey

Numerical Encoding for Human Genetic Variants

genomics position dna variants base chromosome genetic reference-genome nucleotides rsid human-genetic-variants reference-allele alternate-allele variant-normalization reference-position variantkey

Updated Jun 8, 2023
C

luiscleto / framebender

Star

A VCF normalizer in Bend 2 with a machine-checked proof that it follows its specification

dependent-types bioinformatics genomics parallel theorem-proving vcf specification formal-verification bcftools bgzip bend variant-normalization verified-software bend2 law-driven-development

Updated Nov 1, 2026
Shell

copyleftdev / cistron

Star

A convention-safe genome-variant kernel: normalization + VCF/HGVS/VRS boundaries + liftover, validated byte-for-byte against bcftools, vrs-python, and biocommons hgvs.

rust bioinformatics genomics mutation-testing liftover vcf variant-calling ga4gh formal-verification vrs hgvs differential-testing tla-plus variant-normalization refget ga4gh-vrs sequence-variants

Updated Aug 13, 2026
Rust

VCF-to-GA4GH VRS translation and equivalence workbench. Fixed a silent misparse where a malformed VCF line with a missing column could reparse into a different, wrong variant instead of raising an error.

python bioinformatics genomics vcf ga4gh vrs variant-normalization

Updated Oct 19, 2026
Python

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