-
Notifications
You must be signed in to change notification settings - Fork 62
Expand file tree
/
Copy pathmain.nf
More file actions
620 lines (590 loc) · 22.8 KB
/
main.nf
File metadata and controls
620 lines (590 loc) · 22.8 KB
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
49
50
51
52
53
54
55
56
57
58
59
60
61
62
63
64
65
66
67
68
69
70
71
72
73
74
75
76
77
78
79
80
81
82
83
84
85
86
87
88
89
90
91
92
93
94
95
96
97
98
99
100
101
102
103
104
105
106
107
108
109
110
111
112
113
114
115
116
117
118
119
120
121
122
123
124
125
126
127
128
129
130
131
132
133
134
135
136
137
138
139
140
141
142
143
144
145
146
147
148
149
150
151
152
153
154
155
156
157
158
159
160
161
162
163
164
165
166
167
168
169
170
171
172
173
174
175
176
177
178
179
180
181
182
183
184
185
186
187
188
189
190
191
192
193
194
195
196
197
198
199
200
201
202
203
204
205
206
207
208
209
210
211
212
213
214
215
216
217
218
219
220
221
222
223
224
225
226
227
228
229
230
231
232
233
234
235
236
237
238
239
240
241
242
243
244
245
246
247
248
249
250
251
252
253
254
255
256
257
258
259
260
261
262
263
264
265
266
267
268
269
270
271
272
273
274
275
276
277
278
279
280
281
282
283
284
285
286
287
288
289
290
291
292
293
294
295
296
297
298
299
300
301
302
303
304
305
306
307
308
309
310
311
312
313
314
315
316
317
318
319
320
321
322
323
324
325
326
327
328
329
330
331
332
333
334
335
336
337
338
339
340
341
342
343
344
345
346
347
348
349
350
351
352
353
354
355
356
357
358
359
360
361
362
363
364
365
366
367
368
369
370
371
372
373
374
375
376
377
378
379
380
381
382
383
384
385
386
387
388
389
390
391
392
393
394
395
396
397
398
399
400
401
402
403
404
405
406
407
408
409
410
411
412
413
414
415
416
417
418
419
420
421
422
423
424
425
426
427
428
429
430
431
432
433
434
435
436
437
438
439
440
441
442
443
444
445
446
447
448
449
450
451
452
453
454
455
456
457
458
459
460
461
462
463
464
465
466
467
468
469
470
471
472
473
474
475
476
477
478
479
480
481
482
483
484
485
486
487
488
489
490
491
492
493
494
495
496
497
498
499
500
501
502
503
504
505
506
507
508
509
510
511
512
513
514
515
516
517
518
519
520
521
522
523
524
525
526
527
528
529
530
531
532
533
534
535
536
537
538
539
540
541
542
543
544
545
546
547
548
549
550
551
552
553
554
555
556
557
558
559
560
561
562
563
564
565
566
567
568
569
570
571
572
573
574
575
576
577
578
579
580
581
582
583
584
585
586
587
588
589
590
591
592
593
594
595
596
597
598
599
600
601
602
603
604
605
606
607
608
609
610
611
612
613
614
615
616
617
618
619
620
#!/usr/bin/env nextflow
/*
~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
nf-core/raredisease
~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
Github : https://github.com/nf-core/raredisease
Website: https://nf-co.re/raredisease
Slack : https://nfcore.slack.com/channels/raredisease
----------------------------------------------------------------------------------------
*/
/*
~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
IMPORT FUNCTIONS / MODULES / SUBWORKFLOWS / WORKFLOWS
~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
*/
include { samplesheetToList } from 'plugin/nf-schema'
include { CREATE_HGNCIDS_FILE } from './modules/local/create_hgncids_file'
include { CREATE_PEDIGREE_FILE } from './modules/local/create_pedigree_file'
include { channelFromPath } from './subworkflows/local/utils_nfcore_raredisease_pipeline'
include { channelFromPathWithMeta } from './subworkflows/local/utils_nfcore_raredisease_pipeline'
include { channelFromSamplesheet } from './subworkflows/local/utils_nfcore_raredisease_pipeline'
include { parseSkipList } from './subworkflows/local/utils_nfcore_raredisease_pipeline'
include { PIPELINE_INITIALISATION } from './subworkflows/local/utils_nfcore_raredisease_pipeline'
include { PIPELINE_COMPLETION } from './subworkflows/local/utils_nfcore_raredisease_pipeline'
include { PREPARE_REFERENCES } from './subworkflows/local/prepare_references'
include { RAREDISEASE } from './workflows/raredisease'
include { SCATTER_GENOME } from './subworkflows/local/scatter_genome'
/*
~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
NAMED WORKFLOWS FOR PIPELINE
~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
*/
//
// WORKFLOW: Run main analysis pipeline depending on type of input
//
workflow NFCORE_RAREDISEASE {
take:
ch_alignments
ch_case_info
ch_reads
ch_samples
val_aligner
val_analysis_type
val_bwa
val_bwamem2
val_bwameme
val_cadd_resources
val_call_interval
val_concatenate_snv_calls
val_extract_alignments
val_fai
val_fasta
val_gcnvcaller_model
val_genome
val_gens_gnomad_pos
val_gens_interval_list
val_gens_pon_female
val_gens_pon_male
val_gnomad_af
val_gnomad_af_idx
val_homoplasmy_af_threshold
val_intervals_wgs
val_intervals_y
val_known_dbsnp
val_known_dbsnp_tbi
val_mbuffer_mem
val_ml_model
val_mobile_element_references
val_mobile_element_svdb_annotations
val_mt_aligner
val_mt_fasta
val_mt_subsample_approach
val_mt_subsample_rd
val_mt_subsample_seed
val_multiqc_samples
val_ngsbits_samplegender_method
val_par_bed
val_platform
val_ploidy_model
val_readcount_intervals
val_reduced_penetrance
val_rtg_truthvcfs
val_run_mt_for_wes
val_run_rtgvcfeval
val_sambamba_regions
val_sample_id_map
val_samtools_sort_threads
val_save_mapped_as_cram
val_save_reference
val_score_config_mt
val_score_config_snv
val_score_config_sv
val_sdf
val_sentieon_dnascope_pcr_indel_model
val_sequence_dictionary
val_skip_tools
val_skip_subworkflows
val_subdepth
val_svdb_query_bedpedbs
val_svdb_query_dbs
val_target_bed
val_variant_caller
val_variant_catalog
val_variant_consequences_snv
val_variant_consequences_sv
val_vcf2cytosure_blacklist
val_vcfanno_extra_resources
val_vcfanno_lua
val_vcfanno_resources
val_vcfanno_toml
val_vep_cache_version
val_vep_filters
val_vep_filters_scout_fmt
val_vep_plugin_files
val_verifybamid_svd_bed
val_verifybamid_svd_mu
val_verifybamid_svd_ud
val_vep_cache
main:
//
// WORKFLOW: Run pipeline
//
ch_versions = channel.empty()
PREPARE_REFERENCES (
val_aligner,
val_analysis_type,
val_bwa,
val_bwamem2,
val_bwameme,
val_fai,
val_fasta,
val_gnomad_af,
val_gnomad_af_idx,
val_known_dbsnp,
val_known_dbsnp_tbi,
val_mt_aligner,
val_mt_fasta,
val_run_mt_for_wes,
val_run_rtgvcfeval,
val_sdf,
val_sequence_dictionary,
val_target_bed,
val_vcfanno_extra_resources,
val_vep_cache,
val_save_reference
)
.set { ch_references }
ch_bait_intervals = ch_references.bait_intervals
ch_dbsnp = ch_references.dbsnp
ch_dbsnp_tbi = ch_references.dbsnp_tbi
ch_genome_bwaindex = ch_references.genome_bwa_index
ch_genome_bwamem2index = ch_references.genome_bwamem2_index
ch_genome_bwamemeindex = ch_references.genome_bwameme_index
ch_genome_chrsizes = ch_references.genome_chrom_sizes
ch_genome_fai = ch_references.genome_fai
ch_genome_fasta = ch_references.genome_fasta
ch_genome_dictionary = ch_references.genome_dict
ch_genome_hisat2index = ch_references.genome_hisat2_index
ch_gnomad_af = ch_references.gnomad_af_idx
ch_mt_bwaindex = ch_references.mt_bwa_index
ch_mt_bwamem2index = ch_references.mt_bwamem2_index
ch_mt_dictionary = ch_references.mt_dict
ch_mt_fai = ch_references.mt_fai
ch_mt_fasta = ch_references.mt_fasta
ch_mt_intervals = ch_references.mt_intervals
ch_mt_lastdb = ch_references.mt_last_index
ch_mtshift_backchain = ch_references.mtshift_backchain
ch_mtshift_bwaindex = ch_references.mtshift_bwa_index
ch_mtshift_bwamem2index = ch_references.mtshift_bwamem2_index
ch_mtshift_dictionary = ch_references.mtshift_dict
ch_mtshift_fai = ch_references.mtshift_fai
ch_mtshift_fasta = ch_references.mtshift_fasta
ch_mtshift_intervals = ch_references.mtshift_intervals
ch_sdf = ch_references.sdf
ch_target_bed = ch_references.target_bed
ch_target_intervals = ch_references.target_intervals
ch_vcfanno_extra = ch_references.vcfanno_extra
ch_vep_cache = ch_references.vep_resources
// Using channelFromPath helper (val_x ? channel.fromPath(val_x).collect() : channel.value([]))
ch_cadd_resources = channelFromPath(val_cadd_resources, true)
ch_multiqc_samples = channelFromPath(val_multiqc_samples, true)
ch_reduced_penetrance = channelFromPath(val_reduced_penetrance, true)
ch_rtg_truthvcfs = channelFromPath(val_rtg_truthvcfs, true)
ch_score_config_mt = channelFromPath(val_score_config_mt, true)
ch_score_config_snv = channelFromPath(val_score_config_snv, true)
ch_score_config_sv = channelFromPath(val_score_config_sv, true)
ch_vcf2cytosure_blacklist = channelFromPath(val_vcf2cytosure_blacklist, true)
ch_vcfanno_lua = channelFromPath(val_vcfanno_lua, true)
ch_vcfanno_toml = channelFromPath(val_vcfanno_toml, true)
// Using channelFromPath helper (val_x ? channel.fromPath(val_x).collect() : channel.empty())
ch_gens_gnomad_pos = channelFromPath(val_gens_gnomad_pos)
ch_gens_interval_list = channelFromPath(val_gens_interval_list)
ch_intervals_wgs = channelFromPath(val_intervals_wgs)
ch_intervals_y = channelFromPath(val_intervals_y)
ch_me_svdb_resources = channelFromPath(val_mobile_element_svdb_annotations)
ch_readcount_intervals = channelFromPath(val_readcount_intervals)
ch_svd_bed = channelFromPath(val_verifybamid_svd_bed)
ch_svd_mu = channelFromPath(val_verifybamid_svd_mu)
ch_svd_ud = channelFromPath(val_verifybamid_svd_ud)
// Using channelFromPathWithMeta helper (with simpleName). If filepath is null, returns, [[:],[]]
ch_call_interval = channelFromPathWithMeta(val_call_interval, true)
ch_ml_model = channelFromPathWithMeta(val_ml_model, true)
ch_variant_catalog = channelFromPathWithMeta(val_variant_catalog, true)
ch_variant_consequences_snv = channelFromPathWithMeta(val_variant_consequences_snv, true)
ch_variant_consequences_sv = channelFromPathWithMeta(val_variant_consequences_sv, true)
// Using channelFromPathWithMeta helper (with simpleName). If filepath is null, returns, empty channel
ch_gens_pon_female = channelFromPathWithMeta(val_gens_pon_female)
ch_gens_pon_male = channelFromPathWithMeta(val_gens_pon_male)
ch_ploidy_model = channelFromPathWithMeta(val_ploidy_model)
// Using channelFromPathWithMeta helper. Returns either an empty channel or [[:],[]] or a channel with custom ID.
ch_par_bed = channelFromPathWithMeta(val_par_bed, true, "par_bed")
ch_sambamba_bed = channelFromPathWithMeta(val_sambamba_regions, false, 'sambamba')
ch_vep_filters_std_fmt = channelFromPathWithMeta(val_vep_filters, false, 'standard')
ch_vep_filters_scout_fmt = channelFromPathWithMeta(val_vep_filters_scout_fmt, false, 'scout')
// Using channelFromSamplesheet helper. Returns either an empty channel or validated channel.
ch_me_references = channelFromSamplesheet(val_mobile_element_references, "${projectDir}/assets/mobile_element_references_schema.json", false)
ch_me_svdb_resources = channelFromSamplesheet(val_mobile_element_svdb_annotations, "${projectDir}/assets/svdb_query_vcf_schema.json")
ch_sample_id_map = channelFromSamplesheet(val_sample_id_map, "${projectDir}/assets/sample_id_map.json")
ch_svdb_bedpedbs = channelFromSamplesheet(val_svdb_query_bedpedbs, "${projectDir}/assets/svdb_query_bedpe_schema.json")
ch_svdb_dbs = channelFromSamplesheet(val_svdb_query_dbs, "${projectDir}/assets/svdb_query_vcf_schema.json")
ch_cadd_header = channel.fromPath("$projectDir/assets/cadd_to_vcf_header_-1.0-.txt", checkIfExists: true).collect()
ch_foundin_header = channel.fromPath("$projectDir/assets/foundin.hdr", checkIfExists: true).collect()
ch_ngsbits_method = channel.value(val_ngsbits_samplegender_method)
ch_sentieon_pcr_indel_model = channel.value(val_sentieon_dnascope_pcr_indel_model)
ch_subdepth = channel.value(val_subdepth)
ch_vcfanno_resources = val_vcfanno_resources ? channel.fromPath(val_vcfanno_resources).splitText().map{it -> it.trim()}.collect()
: channel.value([])
ch_gcnvcaller_model = val_gcnvcaller_model ? channel.fromPath(val_gcnvcaller_model)
.splitCsv ( header:true )
.map { row ->
return [[id:file(row.models).simpleName], row.models]
}
: channel.empty()
//
// Read and store paths in the vep_plugin_files file
//
ch_vep_extra_files = channel.empty()
if (val_vep_plugin_files) {
channel.fromPath(val_vep_plugin_files)
.collect()
.splitCsv ( header:true )
.map { row ->
def f = file(row.vep_files[0])
if(f.isFile() || f.isDirectory()){
return [f]
} else {
error("\nVep database file ${f} does not exist.")
}
}
.collect()
.set {ch_vep_extra_files}
}
//
// Dump all HGNC ids in a file
//
ch_vep_filters_scout_fmt
.mix (ch_vep_filters_std_fmt)
.set {ch_vep_filters}
CREATE_HGNCIDS_FILE(ch_vep_filters)
.txt
.set {ch_hgnc_ids}
//
// Generate pedigree file
//
ch_pedfile = CREATE_PEDIGREE_FILE(ch_samples.toList()).ped
ch_pedfile_publish = CREATE_PEDIGREE_FILE.out.ped
.map { ped -> ['pedigree/', [ped]] }
// Tools
skip_fastp = parseSkipList(val_skip_tools, 'fastp')
skip_fastqc = parseSkipList(val_skip_tools, 'fastqc')
skip_gens = parseSkipList(val_skip_tools, 'gens')
skip_germlinecnvcaller = parseSkipList(val_skip_tools, 'germlinecnvcaller')
skip_haplogrep3 = parseSkipList(val_skip_tools, 'haplogrep3')
skip_ngsbits = parseSkipList(val_skip_tools, 'ngsbits')
skip_peddy = parseSkipList(val_skip_tools, 'peddy')
skip_qualimap = parseSkipList(val_skip_tools, 'qualimap')
skip_smncopynumbercaller = parseSkipList(val_skip_tools, 'smncopynumbercaller')
skip_vcf2cytosure = parseSkipList(val_skip_tools, 'vcf2cytosure')
// Subworkflows
skip_me_annotation = parseSkipList(val_skip_subworkflows, 'me_annotation')
skip_me_calling = parseSkipList(val_skip_subworkflows, 'me_calling')
skip_mt_annotation = parseSkipList(val_skip_subworkflows, 'mt_annotation')
skip_mt_subsample = parseSkipList(val_skip_subworkflows, 'mt_subsample')
skip_repeat_annotation = parseSkipList(val_skip_subworkflows, 'repeat_annotation')
skip_repeat_calling = parseSkipList(val_skip_subworkflows, 'repeat_calling')
skip_snv_annotation = parseSkipList(val_skip_subworkflows, 'snv_annotation')
skip_snv_calling = parseSkipList(val_skip_subworkflows, 'snv_calling')
skip_sv_annotation = parseSkipList(val_skip_subworkflows, 'sv_annotation')
skip_sv_calling = parseSkipList(val_skip_subworkflows, 'sv_calling')
skip_generate_clinical_set = parseSkipList(val_skip_subworkflows, 'generate_clinical_set')
//
// SV caller priority
//
if (skip_germlinecnvcaller) {
if (val_analysis_type.equals("wgs")) {
ch_svcaller_priority = channel.value(["tiddit", "manta", "cnvnator", "mitosalt"])
} else if (val_run_mt_for_wes) {
ch_svcaller_priority = channel.value(["mitosalt"])
} else {
ch_svcaller_priority = channel.value([])
}
} else {
if (val_analysis_type.equals("wgs")) {
ch_svcaller_priority = channel.value(["tiddit", "manta", "gcnvcaller", "cnvnator", "mitosalt"])
} else if (val_run_mt_for_wes) {
ch_svcaller_priority = channel.value(["manta", "gcnvcaller", "mitosalt"])
} else {
ch_svcaller_priority = channel.value(["manta", "gcnvcaller"])
}
}
//
// Create chromosome bed and intervals for splitting and gathering operations
//
ch_scatter_split_intervals = channel.empty()
ch_scatter_genome_publish = channel.empty()
if (!skip_snv_annotation) {
SCATTER_GENOME (
ch_genome_dictionary,
ch_genome_fai,
ch_genome_fasta,
params.save_reference
)
ch_scatter_split_intervals = SCATTER_GENOME.out.split_intervals
ch_scatter_genome_publish = SCATTER_GENOME.out.publish
}
RAREDISEASE (
ch_alignments,
ch_bait_intervals,
ch_cadd_header,
ch_cadd_resources,
ch_call_interval,
ch_case_info,
ch_dbsnp,
ch_dbsnp_tbi,
ch_foundin_header,
ch_gcnvcaller_model,
ch_genome_bwaindex,
ch_genome_bwamem2index,
ch_genome_bwamemeindex,
ch_genome_chrsizes,
ch_genome_dictionary,
ch_genome_fai,
ch_genome_fasta,
ch_genome_hisat2index,
ch_gens_gnomad_pos,
ch_gens_interval_list,
ch_gens_pon_female,
ch_gens_pon_male,
ch_gnomad_af,
ch_hgnc_ids,
ch_intervals_wgs,
ch_intervals_y,
ch_me_references,
ch_me_svdb_resources,
ch_ml_model,
ch_mt_bwaindex,
ch_mt_bwamem2index,
ch_mt_dictionary,
ch_mt_fai,
ch_mt_fasta,
ch_mt_intervals,
ch_mt_lastdb,
ch_mtshift_backchain,
ch_mtshift_bwaindex,
ch_mtshift_bwamem2index,
ch_mtshift_dictionary,
ch_mtshift_fai,
ch_mtshift_fasta,
ch_mtshift_intervals,
ch_multiqc_samples,
ch_ngsbits_method,
ch_par_bed,
ch_pedfile,
ch_ploidy_model,
ch_readcount_intervals,
ch_reads,
ch_reduced_penetrance,
ch_rtg_truthvcfs,
ch_sambamba_bed,
ch_sample_id_map,
ch_samples,
ch_scatter_split_intervals,
ch_score_config_mt,
ch_score_config_snv,
ch_score_config_sv,
ch_sdf,
ch_sentieon_pcr_indel_model,
ch_subdepth,
ch_svcaller_priority,
ch_svd_bed,
ch_svd_mu,
ch_svd_ud,
ch_svdb_bedpedbs,
ch_svdb_dbs,
ch_target_bed,
ch_target_intervals,
ch_variant_catalog,
ch_variant_consequences_snv,
ch_variant_consequences_sv,
ch_vcf2cytosure_blacklist,
ch_vcfanno_extra,
ch_vcfanno_lua,
ch_vcfanno_resources,
ch_vcfanno_toml,
ch_vep_cache,
ch_vep_extra_files,
ch_versions,
skip_me_calling,
skip_me_annotation,
skip_mt_annotation,
skip_mt_subsample,
skip_repeat_annotation,
skip_repeat_calling,
skip_snv_annotation,
skip_snv_calling,
skip_sv_annotation,
skip_sv_calling,
skip_generate_clinical_set,
skip_fastp,
skip_fastqc,
skip_gens,
skip_germlinecnvcaller,
skip_haplogrep3,
skip_ngsbits,
skip_peddy,
skip_qualimap,
skip_smncopynumbercaller,
skip_vcf2cytosure,
val_aligner,
val_analysis_type,
val_cadd_resources,
val_concatenate_snv_calls,
val_extract_alignments,
val_genome,
val_homoplasmy_af_threshold,
val_mbuffer_mem,
val_mt_aligner,
val_mt_subsample_approach,
val_mt_subsample_rd,
val_mt_subsample_seed,
val_platform,
val_run_mt_for_wes,
val_run_rtgvcfeval,
val_sample_id_map,
val_samtools_sort_threads,
val_save_mapped_as_cram,
val_svdb_query_bedpedbs,
val_svdb_query_dbs,
val_target_bed,
val_variant_caller,
val_vep_cache_version
)
emit:
multiqc_report = RAREDISEASE.out.multiqc_report // channel: /path/to/multiqc_report.html
publish = RAREDISEASE.out.publish
.mix(ch_scatter_genome_publish)
.mix(ch_pedfile_publish)
.mix(ch_references.publish) // channel: [ val(destination), val(value) ]
}
/*
~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
RUN MAIN WORKFLOW
~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
*/
workflow {
main:
//
// SUBWORKFLOW: Run initialisation tasks
//
PIPELINE_INITIALISATION (
params.version,
params.validate_params,
args,
params.outdir,
params.input,
params.help,
params.help_full,
params.show_hidden
)
//
// WORKFLOW: Run main workflow
//
NFCORE_RAREDISEASE (
PIPELINE_INITIALISATION.out.align,
PIPELINE_INITIALISATION.out.case_info,
PIPELINE_INITIALISATION.out.reads,
PIPELINE_INITIALISATION.out.samples,
params.aligner,
params.analysis_type,
params.bwa,
params.bwamem2,
params.bwameme,
params.cadd_resources,
params.call_interval,
params.concatenate_snv_calls,
params.extract_alignments,
params.fai,
params.fasta,
params.gcnvcaller_model,
params.genome,
params.gens_gnomad_pos,
params.gens_interval_list,
params.gens_pon_female,
params.gens_pon_male,
params.gnomad_af,
params.gnomad_af_idx,
params.homoplasmy_af_threshold,
params.intervals_wgs,
params.intervals_y,
params.known_dbsnp,
params.known_dbsnp_tbi,
params.mbuffer_mem,
params.ml_model,
params.mobile_element_references,
params.mobile_element_svdb_annotations,
params.mt_aligner,
params.mt_fasta,
params.mt_subsample_approach,
params.mt_subsample_rd,
params.mt_subsample_seed,
params.multiqc_samples,
params.ngsbits_samplegender_method,
params.par_bed,
params.platform,
params.ploidy_model,
params.readcount_intervals,
params.reduced_penetrance,
params.rtg_truthvcfs,
params.run_mt_for_wes,
params.run_rtgvcfeval,
params.sambamba_regions,
params.sample_id_map,
params.samtools_sort_threads,
params.save_mapped_as_cram,
params.save_reference,
params.score_config_mt,
params.score_config_snv,
params.score_config_sv,
params.sdf,
params.sentieon_dnascope_pcr_indel_model,
params.sequence_dictionary,
params.skip_tools,
params.skip_subworkflows,
params.mitosalt_depth,
params.svdb_query_bedpedbs,
params.svdb_query_dbs,
params.target_bed,
params.variant_caller,
params.variant_catalog,
params.variant_consequences_snv,
params.variant_consequences_sv,
params.vcf2cytosure_blacklist,
params.vcfanno_extra_resources,
params.vcfanno_lua,
params.vcfanno_resources,
params.vcfanno_toml,
params.vep_cache_version,
params.vep_filters,
params.vep_filters_scout_fmt,
params.vep_plugin_files,
params.verifybamid_svd_bed,
params.verifybamid_svd_mu,
params.verifybamid_svd_ud,
params.vep_cache
)
//
// SUBWORKFLOW: Run completion tasks
//
PIPELINE_COMPLETION (
params.email,
params.email_on_fail,
params.plaintext_email,
params.outdir,
params.monochrome_logs,
params.hook_url,
NFCORE_RAREDISEASE.out.multiqc_report
)
publish:
subworkflow_results = NFCORE_RAREDISEASE.out.publish
}
output {
subworkflow_results {
path { destination, value -> destination }
}
}
/*
~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
THE END
~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
*/