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feat: add pindel artifact annotation and filter #71

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merged 18 commits into from
Jul 5, 2024
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elleira
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@elleira elleira commented Jul 4, 2024

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@elleira elleira requested a review from maehler as a code owner July 4, 2024 11:17
@@ -21,6 +21,16 @@ properties:
Path to resources.yaml file
format: uri-reference

pacbio_alignment:
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Is this and ont_alignment related to the artifact filter?

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Yes and no. With the artifact filter i needed to update the cnv_sv module, and in the new version there are some rules for long-read added and by that a new format possible format for the units file. The pacbio_alignment and ont_alignment are used to separate a short-read from a long-read units.tsv.
Jonas and Padraic are working on a solution where Hydra can figure out what type of sequencing are used by itself. But for now its the _alignment variables that determines which columns should be used, so I set those to False by default for Poppy since it is designed for short-read.

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I've looked through it, and from what I can tell it looks alright. I won't be able to test it properly since I'm on holiday, but I trust that it works on your end, and the tests are passing. I have a lot of testing to do when I get back in August.

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elleira commented Jul 5, 2024

Haha no worries, don't forget to have actual vacation as well! 🌴 😎
I should have it working at least on Uppsala-data since we are trying to validate the new panel by early autumn, so i hope it will work for everyone else as well 😅

@elleira elleira merged commit 8aaa171 into main Jul 5, 2024
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@elleira elleira deleted the feat_pindel_artefact branch July 5, 2024 11:46
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2 participants