Annotate Variants (WES)
Using a variant track (
) (e.g. the output from the Identify Variants ready-to-use workflow) the Annotate Variants (WES) ready-to-use workflow runs an internal workflow that adds the following annotations to the variant track:
- Gene names Adds names of genes whenever a variant is found within a known gene.
- mRNA Adds names of mRNA whenever a variant is found within a known transcript.
- CDS Adds names of CDS whenever a variant is found within a coding sequence.
- Amino acid changes Adds information about amino acid changes caused by the variants.
- Information from ClinVar Adds information about the relationships between human variations and their clinical significance.
- Information from dbSNP Adds information from the "Single Nucleotide Polymorphism Database", which is a general catalog of genome variation, including SNPs, multinucleotide polymorphisms (MNPs), insertions and deletions (indels), and short tandem repeats (STRs).
- PhastCons Conservation scores The conservation scores, in this case generated from a multiple alignment with a number of vertebrates, describe the level of nucleotide conservation in the region around each variant.
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