Nirvana (Variant Annotator)

Nirvana provides clinical-grade annotation of genomic variants, such as SNVs, MNVs, insertions, deletions, indels, STRs, SV, and CNVs. Use a VCF as input. The output is a structured JSON representation of all annotations and sample information extracted from the VCF. Nirvana can handle multiple alternate alleles and multiple samples.

DRAGEN provides a standalone implementation of the variant annotation software.

The following steps are required to run Nirvana.

1.

Download external data sources, gene models, and reference genome.

2.

Annotate the resulting JSON file.

By default, the Nirvana binaries are located in the /opt/edico/share/nirvana directory. This directory includes two files: the Downloader and Nirvana.