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Changes test data (#11)
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* changed configurations to fit with standard

* changed channel factoring

* remove extra line

* fix param name

* fix param name

* changed param name

* changed channel factoring

* fixes bug

* fixes typo

* fixes typo

* fix bug

* fix bug

* fix bug

* fix bug

* fixes typo
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l-mansouri authored Nov 20, 2023
1 parent d7736c8 commit b7f9702
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8 changes: 6 additions & 2 deletions README.md
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Expand Up @@ -62,9 +62,13 @@ This is a file needed by exomiser to run. It contains information on where to fi

This is a file needed by exomiser to run. It contains placeholders in the text that get filled in by the second process of the pipeline just before running exomiser. The one used for testing can be found [here](https://lifebit-featured-datasets.s3.eu-west-1.amazonaws.com/pipelines/exomiser-nf/auto_config.yml)

### --exomiser_data
### --exomiser_profile

This path refers to the reference data bundle needed by exomiser (~120 GB!). A copy of such files can be found [here](https://lifebit-featured-datasets.s3.eu-west-1.amazonaws.com/pipelines/exomiser-data-bundle/) . The reference dataset has been added as a parameter, allowing flexibility to pull the data from any resource (i.e. cloud, local storage, ftp, ...) and Nextflow will automatically take care of fetching the data without having to add anything to the pipeline itself.
This is a parameter that defines the kind of reference data. It accepts "test" or "full".

The "full" profile points to the reference data bundle needed by exomiser (~120 GB!). A copy of such files can be found [here](https://lifebit-featured-datasets.s3.eu-west-1.amazonaws.com/pipelines/exomiser-data-bundle/) . The reference dataset has been added as a parameter, allowing flexibility to pull the data from any resource (i.e. cloud, local storage, ftp, ...) and Nextflow will automatically take care of fetching the data without having to add anything to the pipeline itself.

The "test" profile points to some mock data used in testing.

There are other parameters that can be tweaked to personalize the behaviour of the pipeline. These are referenced in `nextflow.config`

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15 changes: 13 additions & 2 deletions conf/data/data.config
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@@ -1,7 +1,18 @@
// If there is any data that needs to be included in the config, it should be placed here using "${params.reference_data_bucket}/path/to/data"
params {
exomiser_data = "${params.reference_data_bucket}/pipelines/exomiser-data-bundle"
exomiser_data_profile{
'test'{
data_bundle = "${params.reference_data_bucket}/pipelines/exomiser/very_fake/hg38"
exomiser_phenotype_data = "${params.reference_data_bucket}/pipelines/exomiser/very_fake/2102_phenotype"
cadd_snvs = "${params.reference_data_bucket}/pipelines/exomiser/very_fake/cadd_snvs"
phenix_data = "${params.reference_data_bucket}/pipelines/exomiser/very_fake/phenix"
}
'full'{
data_bundle = "${params.reference_data_bucket}/pipelines/exomiser-data-bundle"
}
}

application_properties = "${params.reference_data_bucket}/pipelines/exomiser-nf/application.properties"
auto_config_yml = '${params.reference_data_bucket}/pipelines/exomiser-nf/auto_config_v2.yml'
auto_config_yml = "${params.reference_data_bucket}/pipelines/exomiser-nf/auto_config_V2.yml"

}
7 changes: 0 additions & 7 deletions conf/family_test.config

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7 changes: 0 additions & 7 deletions conf/multi_hpo_test.config

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8 changes: 0 additions & 8 deletions conf/single_vcf_test.config

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5 changes: 1 addition & 4 deletions conf/tests/ci/ci_test_data.config
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@@ -1,6 +1,3 @@
params {
exomiser_data = "${params.reference_data_bucket}/pipelines/exomiser/very_fake/hg38"
exomiser_phenotype_data = "${params.reference_data_bucket}/pipelines/exomiser/very_fake/2102_phenotype"
cadd_snvs = "${params.reference_data_bucket}/pipelines/exomiser/very_fake/cadd_snvs"
phenix_data = "${params.reference_data_bucket}/pipelines/exomiser/very_fake/phenix"
exomiser_profile_files = 'test'
}
2 changes: 1 addition & 1 deletion conf/tests/full/test_full.config
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Expand Up @@ -4,6 +4,6 @@ params {
sample_name = 'HG001_NA12878'
hpo_terms_file = "${params.reference_data_bucket}/pipelines/exomiser-nf/hpo_terms_file.txt"
prioritisers = 'hiPhivePrioritiser'
exomiser_data = "${params.reference_data_bucket}/pipelines/exomiser-data-bundle"
exomiser_profile_files = 'full'
application_properties = "${params.reference_data_bucket}/pipelines/exomiser-nf/application.properties"
}
2 changes: 1 addition & 1 deletion conf/tests/full/test_full_family.config
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@@ -1,7 +1,7 @@
params {
families_file = 's3://lifebit-featured-datasets/pipelines/exomiser-nf/fam_file.tsv'
prioritisers = 'hiPhivePrioritiser'
exomiser_data = "s3://lifebit-featured-datasets/pipelines/exomiser-data-bundle"
exomiser_profile_files = 'full'
application_properties = 's3://lifebit-featured-datasets/pipelines/exomiser-nf/application.properties'
auto_config_yml = 's3://lifebit-featured-datasets/pipelines/exomiser-nf/auto_config.yml'
}
2 changes: 1 addition & 1 deletion conf/tests/full/test_full_multi_hpo.config
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@@ -1,7 +1,7 @@
params {
families_file = 's3://lifebit-featured-datasets/pipelines/exomiser-nf/fam_file_multi_hpo.tsv'
prioritisers = 'hiPhivePrioritiser'
exomiser_data = "s3://lifebit-featured-datasets/pipelines/exomiser-data-bundle"
exomiser_profile_files = 'full'
application_properties = 's3://lifebit-featured-datasets/pipelines/exomiser-nf/application.properties'
auto_config_yml = 's3://lifebit-featured-datasets/pipelines/exomiser-nf/auto_config.yml'
}
2 changes: 1 addition & 1 deletion conf/tests/full/test_full_single_vcf.config
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Expand Up @@ -2,7 +2,7 @@ params {
families_file = 's3://lifebit-featured-datasets/pipelines/exomiser-nf/single_vcf.tsv'
hpo_terms_file = 's3://lifebit-featured-datasets/pipelines/exomiser-nf/hpo_terms_file.txt'
prioritisers = 'hiPhivePrioritiser'
exomiser_data = "s3://lifebit-featured-datasets/pipelines/exomiser-data-bundle"
exomiser_profile_files = 'full'
application_properties = 's3://lifebit-featured-datasets/pipelines/exomiser-nf/application.properties'
auto_config_yml = 's3://lifebit-featured-datasets/pipelines/exomiser-nf/auto_config.yml'
}
12 changes: 10 additions & 2 deletions main.nf
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Expand Up @@ -24,7 +24,7 @@ if(params.hpo_file) log.info "-${c_teal}filename_hpo:${c_reset}- ${params.filena
if(params.ped_file) log.info "-${c_teal}filename_ped:${c_reset}- ${params.ped_file}"
if(params.families_file) log.info "-${c_teal}families_file:${c_reset}- ${params.families_file}"
log.info "-${c_teal}analysis_mode:${c_reset}- ${params.analysis_mode}"
log.info "-${c_teal}exomiser_data:${c_reset}- ${params.exomiser_data}"
log.info "-${c_teal}exomiser_data:${c_reset}- ${params.data_bundle}"
log.info "-${c_teal}exomiser_phenotype_data:${c_reset}- ${params.exomiser_phenotype_data}"
log.info "-${c_teal}phenix_data:${c_reset}- ${params.phenix_data}"
log.info "-${c_teal}pathogenicity_sources:${c_reset}- ${params.pathogenicity_sources}"
Expand Down Expand Up @@ -127,7 +127,15 @@ ch_combined = ch_vcf_paths2.join(ch_to_join, by: 0).view()
Run containarised Exomiser
---------------------------------------------------*/

ch_exomiser_data = Channel.fromPath("${params.exomiser_data}")
if (!params.data_bundle && params.exomiser_profile_files){
exomiser_data=params.exomiser_data_profile[params.exomiser_profile_files].data_bundle
Channel.fromPath("${exomiser_data}")
.set{ch_exomiser_data }
}else{
Channel.fromPath("${params.data_bundle}")
.set{ch_exomiser_data }
}




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14 changes: 8 additions & 6 deletions nextflow.config
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Expand Up @@ -23,12 +23,13 @@ params {
filename_hpo = ''
sample_name = null
config = 'conf/executors/standard.config'
exomiser_data = 's3://lifebit-featured-datasets/pipelines/exomiser/very_fake/hg38'
exomiser_phenotype_data = 's3://lifebit-featured-datasets/pipelines/exomiser/very_fake/2102_phenotype'
cadd_snvs = 's3://lifebit-featured-datasets/pipelines/exomiser/very_fake/cadd_snvs'
phenix_data = 's3://lifebit-featured-datasets/pipelines/exomiser/very_fake/phenix'
exomiser_profile_files = 'full' // 'test' for small mock data, 'full' for full data (120GB)
data_bundle = null
exomiser_phenotype_data = null
cadd_snvs = null
phenix_data = null
application_properties = "${params.reference_data_bucket}/pipelines/exomiser-nf/application.properties"
auto_config_yml = '${params.reference_data_bucket}/pipelines/exomiser-nf/auto_config_v2.yml'
auto_config_yml = "${params.reference_data_bucket}/pipelines/exomiser-nf/auto_config_V2.yml"
hpo_terms_file = false
modes_of_inheritance = 'AUTOSOMAL_DOMINANT,AUTOSOMAL_RECESSIVE,X_RECESSIVE,UNDEFINED'
prioritisers = 'hiPhivePrioritiser,phivePrioritiser,phenixPrioritiser'
Expand Down Expand Up @@ -73,7 +74,7 @@ params {
}

includeConfig 'conf/containers/quay.config'
includeConfig 'conf/data/data.config' // Loads in data
//includeConfig 'conf/data/data.config' // Loads in data


profiles {
Expand All @@ -93,6 +94,7 @@ profiles {
}

includeConfig 'conf/resources.config'
includeConfig 'conf/data/data.config'

process {
echo = params.echo
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