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Add DeepRVAT annotation pipeline #28

Merged
merged 109 commits into from
Oct 20, 2023
Merged

Add DeepRVAT annotation pipeline #28

merged 109 commits into from
Oct 20, 2023

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endast
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@endast endast commented Oct 18, 2023

What

Added Support for all models needed for basic deeprvat run: AbSplice, CADD, SpliceAI, PrimateAI, DeepRIPE (hg2, k5 and parclip model) and DeepSEA. Performs PCA on DeepSEA annotations and merges the annotations into a single file. The pipeline uses BCF files created by the preprocessing steps as input, as well as a pvcf.txt file explaining the order of input files. The pipeline downloads and installs needed repositories, but some files have to be downloaded manually. See VEP Plugins page for instructions to download data needed for CADD, SpliceAI and PrimateAI Plugins.

263267336-d483831e-3558-4e21-9845-4b62ad4eecc3

“Marcel-Mueck” and others added 30 commits August 4, 2023 11:44
Add snakemake, tensorflow and lock numpy
Remove nvidia channel
@endast endast requested a review from Marcel-Mueck October 20, 2023 08:25
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@endast endast marked this pull request as ready for review October 20, 2023 08:31
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@Marcel-Mueck Marcel-Mueck left a comment

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Smoketest, and example run worked fine, everything seems to work.

@endast endast merged commit 99fef96 into main Oct 20, 2023
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@endast endast deleted the deepripe-batch branch October 20, 2023 09:13
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3 participants