mutationtypes (Q5978917): Difference between revisions
From MaRDI portal
Changed an Item |
Added link to MaRDI item. |
||
| (One intermediate revision by one other user not shown) | |||
| Property / MaRDI profile type | |||
| Property / MaRDI profile type: MaRDI software profile / rank | |||
Normal rank | |||
| links / mardi / name | links / mardi / name | ||
Latest revision as of 19:10, 12 March 2024
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.
0 references
14 December 2023
0 references
