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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 is being 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.
Backronym: NImble and Robust VAriant aNnotAtor
Table of Contents
|Getting Started||Everything you need to know about using Nirvana|
|Release Notes||Release notes for each build|
|Design Documents||Documentation on output file formats, etc.|
|Developer Guide||Development protocols and special build instructions|
What does Nirvana annotate?
|For each alternate allele:||For each sample:|
In addition we include data from the following external data sources:
- 1000 Genomes Project
- phyloP conservation score
The data used by Nirvana is largely publicly available, however some data sources have special restrictions on use by non-academic entities.
|Michael Strömberg||Rajat Shuvro Roy||Yu Jiang|
|Project Lead||Lead Developer||Developer|
|Shuli Kang||Julien Lajugie||Haochen Li|