varlociraptor

Crates.iovarlociraptor
lib.rsvarlociraptor
version8.4.8
sourcesrc
created_at2019-05-09 19:08:59.46992
updated_at2024-05-27 14:21:26.520369
descriptionA library for calling of genomic variants using a latent variable model.
homepage
repositoryhttps://github.com/varlociraptor/varlociraptor
max_upload_size
id133142
size1,144,199
Johannes Köster (johanneskoester)

documentation

README

Varlociraptor

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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

Commit count: 1114

cargo fmt