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approach to classify mutations #104

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alantsangmb opened this issue Nov 8, 2022 · 5 comments
Open

approach to classify mutations #104

alantsangmb opened this issue Nov 8, 2022 · 5 comments

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@alantsangmb
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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.

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

Pinging @philipwfowler for advice...

@iqbal-lab
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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)

@philipwfowler
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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

@martinghunt
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Thanks @philipwfowler!

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

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4 participants