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approach to classify mutations

Open alantsangmb opened this issue 3 years ago • 5 comments

Hello~ I have used clockwork to generate final.vcf files using the script only approach. Any advises or tools I can adopt to further analyze the final.vcf files? I would like to classify the mutations according to the WHO catalogue eventually. Thanks in advance for your help.

alantsangmb avatar Nov 08 '22 02:11 alantsangmb

Interpreting the VCFs/catalogues is beyond the scope of Clockwork, which makes the variant calls.

Pinging @philipwfowler for advice...

martinghunt avatar Nov 08 '22 10:11 martinghunt

The WHO catalogue is not really in a fit state for bioinformatic processing (or wasn't on release, i havent checked the latest update), so it is non trivial to go from VCF+WHO to results. Phil is on top of this though (cc-ed above). We did add WHO support to Mykrobe though, for what that is worth (https://github.com/Mykrobe-tools/mykrobe/releases)

iqbal-lab avatar Nov 08 '22 10:11 iqbal-lab

Yes we've written a tool that consumes a Clockwork vcf, a catalogue and a genbank file. It builds on other tools we've written and we've also translated the WHO catalogue into a form that we can parse. https://github.com/oxfordmmm/gnomonicus

philipwfowler avatar Nov 08 '22 13:11 philipwfowler

Thanks @philipwfowler!

martinghunt avatar Nov 08 '22 14:11 martinghunt

Thank you all! I will look into Mykrobe and gnononicus.

alantsangmb avatar Nov 09 '22 01:11 alantsangmb