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Haplotypecaller fix + single sample germline VC #557

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merged 27 commits into from
Jun 16, 2022
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10d60fe
install modules
FriederikeHanssen May 23, 2022
b927443
simple Single sample germline haplotypecaller version
FriederikeHanssen May 23, 2022
f46ed6b
Merge origin/dev
FriederikeHanssen Jun 9, 2022
79aa10f
remove merge conflict markers
FriederikeHanssen Jun 9, 2022
ce01a46
refactor
FriederikeHanssen Jun 9, 2022
9eb5b5b
Merge remote-tracking branch 'upstream/dev' into single_sample_gatk
FriederikeHanssen Jun 9, 2022
a093f69
Merge remote-tracking branch 'upstream/dev' into single_sample_gatk
FriederikeHanssen Jun 10, 2022
0377694
Carry .g ending through depending on generate_gvcf parameter
FriederikeHanssen Jun 10, 2022
2fea2a6
Stab at single sample, test data is awful
FriederikeHanssen Jun 10, 2022
714ce60
accidentally increased ressources for tests
FriederikeHanssen Jun 10, 2022
ca67580
json schema update
FriederikeHanssen Jun 10, 2022
76de1a0
typo in yml
FriederikeHanssen Jun 10, 2022
027691b
remove view & try to get test data to behave
FriederikeHanssen Jun 10, 2022
21728c8
why is the test data failing
FriederikeHanssen Jun 11, 2022
aeefb6f
retire param.generate_gvcf
FriederikeHanssen Jun 13, 2022
ed6ea39
remove generate_gvcf from single sample haplotypecaller
FriederikeHanssen Jun 14, 2022
9a5dc4d
Add publishing for filtervarianttranches
FriederikeHanssen Jun 14, 2022
ffc8ac8
propagate filtered output to annotation
FriederikeHanssen Jun 14, 2022
ceab27d
start working on intervawl integration
FriederikeHanssen Jun 14, 2022
918daef
add intervl output
FriederikeHanssen Jun 15, 2022
f7b9f69
merge upstream/dev
FriederikeHanssen Jun 15, 2022
70b1a90
more merging
FriederikeHanssen Jun 15, 2022
bf17aa0
scatter/gather filtered
FriederikeHanssen Jun 15, 2022
37e3dee
fix naming and add filtered to tests
FriederikeHanssen Jun 15, 2022
2e62f46
Add scatter/gather for WGS
FriederikeHanssen Jun 16, 2022
71fbd91
add output for annotation
FriederikeHanssen Jun 16, 2022
cc5fd50
VINDICATION
FriederikeHanssen Jun 16, 2022
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12 changes: 8 additions & 4 deletions conf/modules.config
Original file line number Diff line number Diff line change
Expand Up @@ -553,23 +553,27 @@ process{
withName: 'MERGE_HAPLOTYPECALLER' {
ext.prefix = {"${meta.id}.g"}
publishDir = [
enabled: !params.no_intervals,
mode: params.publish_dir_mode,
path: { "${params.outdir}/variant_calling/${meta.id}/haplotypecaller" },
saveAs: { filename -> filename.equals('versions.yml') ? null : filename }
]
}
withName: 'HAPLOTYPECALLER' {
ext.args = { params.joint_germline ? "-ERC GVCF" : "" }
ext.args = { params.generate_gvcf ? "-ERC GVCF" : "" }
ext.prefix = { meta.num_intervals <= 1 ? "${meta.id}.g" : "${meta.id}_${intervals.simpleName}.g" }
ext.when = { params.tools && params.tools.contains('haplotypecaller') }
publishDir = [
enabled: params.no_intervals,
mode: params.publish_dir_mode,
path: { "${params.outdir}/variant_calling/${meta.id}/haplotypecaller"},
pattern: "*{vcf.gz,vcf.gz.tbi}"
pattern: "*{vcf.gz,vcf.gz.tbi}",
saveAs: { meta.num_intervals > 1 ? null : it }
]
}

withName: 'FILTERVARIANTTRANCHES' {
ext.args = { "--info-key CNN_1D" }
}

withName: 'GENOTYPEGVCFS' {
ext.when = { params.tools && params.tools.contains('haplotypecaller') && params.joint_germline}
publishDir = [
Expand Down
1 change: 0 additions & 1 deletion conf/test.config
Original file line number Diff line number Diff line change
Expand Up @@ -118,7 +118,6 @@ profiles {
params.fasta = params.test_data['homo_sapiens']['genome']['genome_21_fasta']
params.intervals = params.test_data['homo_sapiens']['genome']['genome_21_multi_interval_bed']
params.step = 'variant_calling'
params.joint_germline = true
params.wes = true

params.nucleotides_per_second = 20
Expand Down
6 changes: 6 additions & 0 deletions modules.json
Original file line number Diff line number Diff line change
Expand Up @@ -102,6 +102,9 @@
"gatk4/calculatecontamination": {
"git_sha": "169b2b96c1167f89ab07127b7057c1d90a6996c7"
},
"gatk4/cnnscorevariants": {
"git_sha": "5d72500d601432f5396e9022c3a709854197db1a"
},
"gatk4/createsequencedictionary": {
"git_sha": "169b2b96c1167f89ab07127b7057c1d90a6996c7"
},
Expand All @@ -111,6 +114,9 @@
"gatk4/filtermutectcalls": {
"git_sha": "169b2b96c1167f89ab07127b7057c1d90a6996c7"
},
"gatk4/filtervarianttranches": {
"git_sha": "175ea9b7f95a0e2fd3679f7a052c6dcb60b61a6e"
},
"gatk4/gatherbqsrreports": {
"git_sha": "169b2b96c1167f89ab07127b7057c1d90a6996c7"
},
Expand Down
58 changes: 58 additions & 0 deletions modules/nf-core/modules/gatk4/cnnscorevariants/main.nf

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80 changes: 80 additions & 0 deletions modules/nf-core/modules/gatk4/cnnscorevariants/meta.yml

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51 changes: 51 additions & 0 deletions modules/nf-core/modules/gatk4/filtervarianttranches/main.nf

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68 changes: 68 additions & 0 deletions modules/nf-core/modules/gatk4/filtervarianttranches/meta.yml

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