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vinaydeep26

camparee's Issues

"pooled" parameter does not work?

Hello ITMAT Bioinformatics Laboratory team,

I have been trying to use CAMPAREE to generate transcripts from an RNA sample. I would like the resulting transcripts to be equal to the reference genome, without any variants. This is so I can introduce specific variants later on and perform benchmarking on variant-calling tools.

In the template.config.yaml file, I found the following description of the "pooled" parameter:
Setting this to 'True' will skip all variant-calling, phasing, parental genome construction, and allele-specific quantification operations in the CAMPAREE pipeline. Simulated transcripts will effectively be generated from the haploid reference genome.

However, even when setting "pooled" to True, the variant calling and phasing are being executed. In my case, during the beagle step, an error occurs which stops the execution. The log is not very descriptive of the problem:

beagle.28Sep18.793.jar (version 5.0)
Copyright (C) 2014-2018 Brian L. Browning
Enter "java -jar beagle.28Sep18.793.jar" to list command line argument
Start time: 01:18 PM CET on 08 Feb 2023

Command line: java -Xmx16080m -jar beagle.28Sep18.793.jar
gt=/media/scratch/rnaseq_read_simulation/analysis/camparee/run_prueba/CAMPAREE/data/all_variants.vcf
out=/media/scratch/rnaseq_read_simulation/analysis/camparee/run_prueba/CAMPAREE/data/beagle
seed=1273642419
nthreads=1

No genetic map is specified: using 1 cM = 1 Mb

Reference samples: 0
Study samples: 1

Window 1 (chr1:16242-39963300)
Study markers: 26,508

BeagleStep error: "REF field is not a sequence of A, C, T, G, or N"

This error appears to be separate from the original issue in which it was discussed. I moved it into its own issue.

I had been running CAMPAREE with only one sample. After reading your comment, I introduced another sample to see if the error would be solved. However, now I am getting a different error, also at the Beagle step.
BeagleStep.log
BeagleStep.serial.err.txt
BeagleStep.serial.out.txt

Originally posted by @Argonvi in #3 (comment)

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