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prosic's Introduction

Varlociraptor

Bioconda GitHub Workflow Status Codecov API docs Conventional Commits Gitpod Ready-to-Code

Varlociraptor implements a novel, unified fully uncertainty-aware approach to genomic variant calling in arbitrary scenarios.

Key features

  • Calls SNVs, MNVs, indels, inversions, duplications, replacements and breakends in all length ranges (from small to structural) with a unified statistical model.
  • The statistical model encompasses all possible sources of uncertainty and biases.
  • Resulting variant calls can be filtered by false discovery rate. No parameter tuning necessary.
  • Unbiased, maximum a posteriori allele frequency estimates are provided with each call.

Calling modes

  • Generic, grammar based configuration of the statistical model, allowing to classify arbitrary scenarios, from poplation genetics, to pedigrees, complex tumor scenarios and arbitrary combinations thereof.
  • Tumor-normal-calling, classifying variants as somatic in tumor, somatic in normal, germline, or absent.

For details, see the homepage: https://varlociraptor.github.io

prosic's People

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prosic's Issues

Clarifications

I have been looking through the source code and I would like some clarifications.

  1. I am unable to determine whether or not the software makes any assumptions about sample names in the VCF? It doesn't appear to really care about the GT columns in the VCF, but I wanted to confirm this. I am mostly concerned that the sample ID in my bam files aren't the same as the ones in my VCF (just TUMOR/NORMAL in my vcf).
  2. In your docs it looks like the order of the disease and normal bam is different than what the command-line help prompt states for the extract observations part.

Edit:

One more question. Does prosic consider soft-clipped bases?

Thanks!

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