mutationtypes (Q5978917)
From MaRDI portal
Validate and Convert Mutational Impacts Using Standard Genomic Dictionaries
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | mutationtypes |
Validate and Convert Mutational Impacts Using Standard Genomic Dictionaries |
Statements
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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14 December 2023
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