Hannes Bretschneider

+1

I am interested in how to handle IVS variant strings too, as I want to convert variants from older papers in bulk to genomic coordinates. What is the "trivial" solution...

Many thanks @reece. Yes, obviously the only use case for this is converting older sources, but I find that a lot of these are still around. For example, the DBASS...

You are completely right about the issue of missing transcript reference. Of course, some papers were written pre-Human Genome Project and the transcripts they were talking about were not even...

Thanks for contributing @kashif and @andravin. I am currently not using this library myself and therefore also not actively developing it either. If either one of you would like to...

I added both of you as collaborators on the repo.

I don't necessarily think the package needs to *work* in terms of producing a report in a shell, but at least it shouldn't raise errors. I think the closest model...