NOTE: This is fork is hosted by Bitscopic for use with BIAS-2015 (https://github.com/bitscopic/BIAS-2015/tree/main), Bitscopic's ACMG germline variant classifier.
Nirvana provides clinical-grade annotation of genomic variants (SNVs, MNVs, insertions, deletions, indels, and SVs (including CNVs). It can be run as a stand-alone package or integrated into larger software tools that require variant annotation.
The input to Nirvana are VCFs and the output is a structured JSON representation of all annotation and sample information (as extracted from the VCF). Optionally, a subset of the annotated data is available in VCF and/or gVCF files. Nirvana handles multiple alternate alleles and multiple samples with ease.
The software was developed under a rigorous SDLC and testing process to ensure accuracy of the results and enable embedding in other software with regulatory needs. Nirvana uses a continuous integration pipeline where millions of variant annotations are monitored against baseline values on a daily basis.
This software is not being actively developed by Bitscopic.
Backronym: NImble and Robust VAriant aNnotAtor
Please note that our documentation site has moved.