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Merge pull request #2 from clara-parabricks-workflows/add_codonfm
Add codonfm
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.gitignore

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myenv
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data
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parabricks_sample*

.gitmodules

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[submodule "CodonFM"]
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path = CodonFM
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url = git@github.com:gburnett-nvidia/CodonFM.git

CodonFM

Submodule CodonFM added at fb12af0

README.md

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# Notebooks
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### **germline_wes**
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### **germline_wes.ipynb**
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- This example uses the Parabricks 4.4.0 release.
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- This example uses whole exome (WES) data from sample NA12878.
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- In the first step, we will map the sequence reads to the reference genome. The input FASTQ files are aligned using the Burrows-Wheeler Aligner (BWA) through the Parabricks fq2bam tool.
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- Lastly, we will run DeepVariant, a deep learning based variant caller on the aligned reads. - It uses a convolutional neural network to find single nucleotide variants (SNVs) and insertions/deletions (InDels).
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### **pangenome.ipynb**
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After a user is able to run this flow, they can try running this on their own data as well as explore cloud examples available at the end of the notebook.
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- This example uses the Parabricks 4.6.0 release
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- It runs through
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# Deployment
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There are two ways to deploy this launchable depending on what level of customization is desired.

images/pangenome_storage.png

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pangenome.ipynb

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scripts/setup.sh

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#!/bin/bash
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# Install bcftools
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wget https://github.com/samtools/bcftools/releases/download/1.23/bcftools-1.23.tar.bz2
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tar xjf bcftools-1.23.tar.bz2
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cd bcftools-1.23 && \
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./configure && \
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make && \
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make install
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# Install CodonFM Python requirements
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pip install -r CodonFM/requirements.txt

variant_effect_prediction.ipynb

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