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Merge pull request #233 from sigven/vep112
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Bump VEP to 112
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sigven authored Jun 10, 2024
2 parents a5510e9 + afba305 commit 28262d1
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Showing 6 changed files with 2 additions and 25 deletions.
2 changes: 1 addition & 1 deletion conda/env/yml/pcgr.yml
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Expand Up @@ -10,7 +10,7 @@ dependencies:
- bedtools
- bcftools
- cyvcf2
- ensembl-vep ==111.0
- ensembl-vep ==112.0
- htslib
- pandoc
- bioconda::perl-bio-bigfile
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13 changes: 0 additions & 13 deletions conda/recipe/pcgr/build.sh
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@@ -1,17 +1,4 @@
#!/usr/bin/env bash
set -x

# Conda env vars: https://docs.conda.io/projects/conda-build/en/latest/user-guide/environment-variables.html

#---- Loftee ----#
# This is used in CPSR for now.
# To make sure same LoF version is used in dockerized and non-dockerized installation.
# ensembl-vep conda package installs most recent version of LoF automatically, however
# it doesn't work with the most recent perl 5.26 (see https://github.com/sigven/cpsr/issues/2).
# Also Loftee for hg38 needs Perl-Bio-BigFile (doesn't come with ensemble-vep, but will come
# with https://github.com/bioconda/bioconda-recipes/pull/18808 once merged).
mkdir ${PREFIX}/share/loftee
tar -xzf ${SRC_DIR}/src/loftee_1.0.3.tgz -C ${PREFIX}/share/loftee

#---- PCGR Python Package Installation ----#
$PYTHON -m pip install . --no-deps -v
2 changes: 1 addition & 1 deletion pcgr/cpsr.py
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Expand Up @@ -197,7 +197,7 @@ def run_cpsr(conf_options, input_data, output_data):
outfile.write(yaml.dump(yaml_data))
outfile.close()

## CPSR|VEP - run Variant Effect Predictor on query VCF with LoF and NearestExonJB plugins
## CPSR|VEP - run Variant Effect Predictor on query VCF with NearestExonJB plugins
vep_command = get_vep_command(file_paths = input_data,
conf_options = yaml_data,
input_vcf = input_vcf_validated,
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4 changes: 0 additions & 4 deletions pcgr/utils.py
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Expand Up @@ -88,10 +88,6 @@ def pcgrr_conda_env_export(pcgrr_env):
cmd = f"export CONDA_PREFIX={pcgrr_conda_env} && export PATH={pcgrr_conda_env}/bin:\"$PATH\""
return cmd

def get_loftee_dir():
pcgr_conda_env = conda_prefix_basename()
return script_path(pcgr_conda_env, "share/loftee")

def get_pcgr_bin():
"""Return abs path to e.g. conda/env/pcgr/bin
"""
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6 changes: 0 additions & 6 deletions pcgr/vep.py
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Expand Up @@ -57,12 +57,6 @@ def get_vep_command(file_paths, conf_options, input_vcf, output_vcf, debug = Fal
vep_options += ' --gencode_basic'
gencode_set_in_use = "GENCODE - basic transcript set (--gencode_basic)"

## LOFTEE plugin - variant loss-of-function annotation
#loftee_dir = utils.get_loftee_dir()
#assert os.path.isdir(loftee_dir), f'LoF VEP plugin is not found in {loftee_dir}. Please make sure you installed pcgr conda package and have corresponding conda environment active.'
#vep_options += f" --plugin LoF,loftee_path:{loftee_dir},human_ancestor_fa:{ancestor_assembly},use_gerp_end_trunc:0 --dir_plugins {loftee_dir}"


# Compose full VEP command
vep_main_command = f'{utils.get_perl_exports()} && vep --input_file {input_vcf} --output_file {output_vcf} {vep_options}'
vep_bgzip_command = f'bgzip -f -c {output_vcf} > {output_vcf_gz}'
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