TRON-Bioinformatics / covigator-ngs-pipeline

A Nextflow pipeline for NGS variant calling on SARS-CoV-2. From FASTQ files to normalized and annotated VCF files from GATK, BCFtools, LoFreq and iVar.
MIT License
18 stars 7 forks source link

Fix phasing #37

Closed priesgo closed 2 years ago

priesgo commented 2 years ago

A couples of issues appeared with phasing.

  1. When running the pipeline with the default references, phasing was skipped as default GFF was not properly initialized. Using a custom GFF was working
  2. As reported in #36 when a couple of overlapping indels are phased together this results in a wrong mutation representation. The reported case had two overlapping deletions, one with a relatively high VAF (0.6) and a second one with a low VAF, these two should never be phased in the first place. Now when the annotation vafator_af is available it only phases mutations with FILTER=PASS and with VAF >= 0.8, as opposed to before where only FILTER=PASS was taken into account. Nevertheless, in case such a situation arises two indels overlapping the same amino acid are never merged. A warning message is written.

Also, took care of several small things: