You can create custom annotation sets in Ion Reporter™ Software. A custom annotation set is a type of
workflow preset that you can add to an analysis workflow so that you can launch analyses that
use the custom annotation set.
Ion Reporter™ Software includes two gene models: RefGene and
Ensembl. Only one gene model can be added to any custom annotation set.
Use the following guidelines to create custom annotation sets.
To use an Ion Reporter™ Software canonical transcript set, you must use
the compatible gene model when you select an annotation source. For example, use the RefGene
gene model with the Refseq canonical transcript set.
To create a custom annotation set that
includes any of the following predefined annotation sources in the custom annotation set, a
gene model must be also included in the annotation set.
IMPORTANT! A custom annotation source that uses the
following annotation sources without a gene model (RefGene and Ensembl) will result in
unexpected analysis results because the custom annotation source is unable to annotate
variants.
Variants are annotated with the genes in the gene model for the
predefined annotation sources in the following order:
OMIM
DRUGBANK
DRA
GO
A gene model must be also included in the
annotation set that is used to create a custom annotation source, such as a gene set or
custom transcript set, if the annotation set includes any of the following predefined
annotation sources:
