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alignment.bam output file seems to be missing #48

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irc47 opened this issue Nov 22, 2024 · 7 comments
Open

alignment.bam output file seems to be missing #48

irc47 opened this issue Nov 22, 2024 · 7 comments
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@irc47
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irc47 commented Nov 22, 2024

Ask away!

The workflow completes but I'm not able to locate the alignment.bam file that is listed as one of the outputs. I've had the same issue running in EPI2me desktop and in the command line and using both the V1.4.1 and with earlier versions of the workflow. Is there something specific I need to do to get this file as an output?

@irc47 irc47 added the question Further information is requested label Nov 22, 2024
@cjalder
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cjalder commented Nov 22, 2024

Hi @irc47 - this seems to be an oversight on our part and they aren't currently output. We'll address this for the next release. For now I can suggest looking in the work directory for them using the following command find ./ -name '*.reads2ref.bam'

@irc47
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irc47 commented Nov 22, 2024

Thank you for such a quick reply- I was able to find the file using this suggestion.

@forty2wallabyway
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Also looking forward to getting a .bam alignment output but for now was able to use the suggested workaround!

What is the reference file that these reads are being aligned against?

@cjalder
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cjalder commented Dec 17, 2024

For de novo mode it will be the draft assembly from Flye (pre-medaka polishing) and for reference based mode it will be the provided reference file.

@forty2wallabyway
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Thanks, that makes sense. When reference_based is used, are gaps/ambiguities due to no/low coverage pulled through from the reference to the final consensus? (This seems to be the case when looking at .medaka.fasta outputs in Geneious, but I could be mistaken.)

@cjalder
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cjalder commented Jan 8, 2025

Hi @forty2wallabyway - you are correct, we're exploring the idea of masking regions of low/no-coverage in a future release to mitigate bias to the reference in these cases.

@forty2wallabyway
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Thanks @cjalder - that would be super helpful for completing genomes from unknown isolates, I think.

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