mutationtypes-package: mutationtypes: Validate and Convert Mutational Impacts Using...

mutationtypes-packageR Documentation

mutationtypes: Validate and Convert Mutational Impacts Using Standard Genomic Dictionaries

Description

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Check concordance of a vector of mutation impacts with standard dictionaries such as Sequence Ontology (SO) http://www.sequenceontology.org/, Mutation Annotation Format (MAF) https://docs.gdc.cancer.gov/Encyclopedia/pages/Mutation_Annotation_Format_TCGAv2/ or Prediction and Annotation of Variant Effects (PAVE) https://github.com/hartwigmedical/hmftools/tree/master/pave. It enables conversion between SO/PAVE and MAF terms and selection of the most severe consequence where multiple ampersand (&) delimited impacts are given.

Author(s)

Maintainer: Sam El-Kamand sam.elkamand@gmail.com (ORCID)

Other contributors:

  • Children's Cancer Institute Australia [copyright holder]

See Also

Useful links:


mutationtypes documentation built on May 29, 2024, 2:22 a.m.