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v0.1.0

First public release, converts VCF variants into a FHIR Genomics Diagnostic Report. We appreciate all the feedback and contributions and look forward to working with the community.

Additions

  • In scope are simple variants (SNVs, Indels), along with zygosity and phase relationships, for autosomes, sex chromosomes, and mitochondrial DNA.
  • Supports VCF file (text-based or bgzipped) and optionally tabix files for query.
  • Supports genome build ('GRCh37' or 'GRCh38');
  • Optionally supports a query region in the form of .bed or dictionary that indicates the region(s) to convert.
  • Optionally supports inclusion of 'region-studied' observations that detail which portions of the conversion region were studied, and of those studied regions, which portions were deemed uncallable.