Annotation

The Illumina Annotation Engine performs annotation of small variants, CNVs, and exon-level CNVs. The inputs are gVCF files and the outputs are annotated JSON files.

The Illumina Annotation Engine processes each variant entry and annotates with available information from databases such as dbSNP, gnomAD genome and exome, 1000 genomes, ClinVar, COSMIC, RefSeq, and Ensembl. The header includes version information and general details. Each annotated variant is included as a nested dictionary structure in separate lines following the header.