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mutationtypes: Validate and Convert Mutational Impacts Using Standard Genomic Dictionaries
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.
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Package details |
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| Author | Sam El-Kamand [aut, cre] (<https://orcid.org/0000-0003-2270-8088>), Children's Cancer Institute Australia [cph] |
| Maintainer | Sam El-Kamand <sam.elkamand@gmail.com> |
| License | LGPL (>= 3) |
| Version | 0.0.1 |
| URL | https://github.com/selkamand/mutationtypes |
| Package repository | View on CRAN |
| Installation |
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