The introduction section mentions that Nirvana can annotate SNVs as well as SVs. In the user guide, there is a section titled Data Sources which contains a long list of databases, It is not clear which annotations are relevant to which variant category. It would be nice to see an example output file in the repository of an annotated whole genome sequencing sample with informative explanation alongside it.
The introduction section mentions that Nirvana can annotate SNVs as well as SVs. In the user guide, there is a section titled Data Sources which contains a long list of databases, It is not clear which annotations are relevant to which variant category. It would be nice to see an example output file in the repository of an annotated whole genome sequencing sample with informative explanation alongside it.