🧬
TB-Profiler
  • TB-Profiler
  • Quickstart
    • Install
    • Mutation library
    • Updating
    • Quick start example
    • Generating summary files
    • Webserver
    • Windows
    • Citation
  • Development
    • Running on many samples
    • Writing a custom collate script
  • Translations
    • Nederlands
    • Português
  • News
    • Switch from to snpEff
Powered by GitBook
On this page

Was this helpful?

  1. News

Switch from to snpEff

TB-Profiler has used bcftools csq to annotate variant calls, converting into protein/gene consequences. The main advantages is of csq is that if two mutations are present in the same codon it will translate them both at the same time.

However there are cases that it does not do the right thing, e.g. ERR2864220:

{
      "chrom": "Chromosome",
      "genome_pos": 3087252,
      "ref": "G",
      "alt": "GGC",
      "freq": 0.7,
      "feature_id": "CCP45579",
      "type": "frameshift_variant",
      "nucleotide_change": "c.436_437dupGC",
      "protein_change": "p.Tyr147fs",
      "alternate_consequences": [],
      "change": "c.436_437dupGC",
      "locus_tag": "Rv2780",
      "gene": "ald",
      "drugs": [
        {
          "type": "drug",
          "drug": "cycloserine",
          "confidence": "indeterminate"
        }
      ]
    },
    {
      "chrom": "Chromosome",
      "genome_pos": 3087715,
      "ref": "C",
      "alt": "CGA",
      "freq": 0.32142857142857145,
      "feature_id": "CCP45579",
      "type": "frameshift_variant",
      "nucleotide_change": "c.897_898dupGA",
      "protein_change": "p.Asn300fs",
      "alternate_consequences": [],
      "change": "c.897_898dupGA",
      "locus_tag": "Rv2780",
      "gene": "ald",
      "drugs": [
        {
          "type": "drug",
          "drug": "cycloserine",
          "confidence": "indeterminate"
        }
      ]
    }
PreviousPortuguês

Last updated 3 years ago

Was this helpful?