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Annotate
Måns Magnusson edited this page Jun 2, 2015
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This command is for annotating variants in a vcf file. The variants will get different annotations based on the input to genmod annotate
- Regions will be annotated
- genetic models will be annotated is a ped file is provided
- allele frequencies will be annotated if a frequency file is provided (1000G or Exac)
Each variants will be annotated with the regions (genes) that they overlap, the vcf key is Annotations
.
If there are no annotations directory given as input the default annotation in genmod/annotations
will be used.
This default annotation is built from the human refGene dataset.
A custom annotation can be built by using the genmod build_annotation command.
By doing this it is possible to annotate any organism or use another set of human annotations.