This repository has been archived by the owner on May 28, 2024. It is now read-only.
-
Notifications
You must be signed in to change notification settings - Fork 0
/
detect_cnv.yaml
723 lines (723 loc) · 33.8 KB
/
detect_cnv.yaml
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
621
622
623
624
625
626
627
628
629
630
631
632
633
634
635
636
637
638
639
640
641
642
643
644
645
646
647
648
649
650
651
652
653
654
655
656
657
658
659
660
661
662
663
664
665
666
667
668
669
670
671
672
673
674
675
676
677
678
679
680
681
682
683
684
685
686
687
688
689
690
691
692
693
694
695
696
697
698
699
700
701
702
703
704
705
706
707
708
709
710
711
712
713
714
715
716
717
718
719
720
721
722
723
!mobyle/program
name: detect_cnv
title: detect_cnv
description: Copy Number Variation (CNV) detection from signal intensity data (Illumina
file)
inputs: !mobyle/inputparagraph
children:
- !mobyle/inputprogramparagraph
prompt: Preprocessing of Illumina intensity file for Copy Number Variation
(CNV) detection
name: preprocess
children:
- !mobyle/inputprogramparameter {comment: "The input signal intensity file\
\ is a text file that contains information for one marker per\n \
\ line, and all fields in each line are tab-delimitedThe\
\ first line of the file specifies the meaning for each tab-delimited\
\ column. \n For example, there are six fields in each line\
\ in the file, corresponding to SNP name, chromosome, \n position,\
\ genotype, Log R Ratio (LRR) and B Allele Frequency (BAF), respectively.The\
\ CNV calling only requires the SNP Name, LRR and BAF values. Note\
\ that the relative position\n of LRR and BAF is different\
\ from the previous file; again the header line tells the program\
\ that the \n second column represents BAF values, yet the\
\ third column is LRR values.", prompt: Input signal intensity file,
format: '" " + str(value)', simple: true, argpos: 1, mandatory: true,
name: infile, command: false}
- !mobyle/inputprogramparameter
prompt: Number of tab-delimited column (field) per individual genotyping
in intensity file
format: '" split " + str(value) + " -heading 3 --name_by_header -tab --out
"+ str(infile)'
simple: true
argpos: 2
mandatory: true
name: split
command: false
type: !mobyle/integertype {}
- !mobyle/inputprogramparagraph
prompt: Penncnv analyses
name: analyse
argpos: 10
children:
- !mobyle/inputprogramparameter
comment: "--test: test a signal intensity file to generate CNV calls.--joint:\
\ New in July 2008: generate CNV calls for a father-mother-off-\n\
\ spring trio via a one-step procedure. It is considerably\
\ slower\n than the --trio argument, but generates more\
\ accurate CNV calls\n with reduced false negative rates\
\ in simulation studies.--summary: generate summary statistics on\
\ signal quality for each input\n file. Usually the\
\ summary is provided when calling CNVs and can\n be\
\ written to a log file via the --log argument; however, some-\n \
\ times users forget to use --log, such that the signal\
\ quality\n information is lost. The --summary argument\
\ can calculate the\n signal quality again quickly without\
\ calling CNVs."
prompt: Analyse type without cnv calls file
format: ( "" , " && detect_cnv.pl " + str(value) )[ value is not None
and value !=vdef]
simple: true
name: type
command: false
type: !mobyle/stringtype
default: 'null'
options:
- {label: Choice, value: 'null'}
- {label: Individual-based CNV calling (test), value: --test}
- {label: Joint CNV calls for trio (joint), value: --joint}
- {label: Validate copy number at a pre-specified region (validate),
value: --validate}
- {label: Summary statistics on signal quality (summary), value: --summary}
- !mobyle/inputprogramparameter
comment: "--trio: generate CNV calls for a father-mother-offspring trio,\
\ given a\n CNV file containing calls generated on each\
\ individual separately, a HMM model file, a PFB file, and the three\
\ signal\n intensity files.--quartet: jointly generate\
\ CNV calls for a father-mother-offspring1-offp-\n spring2\
\ quartet, given a CNV file containing calls generated on\n \
\ each individual separately, a HMM model file, a PFB file,\
\ and\n the four signal intensity files.--cctest: perform\
\ a case-control test on the frequency of having CNVs for\n \
\ each marker within CNVs. A separate phenotype file must\
\ be\n specified via the --phenofile argument for this\
\ to work. The\n actual test is a two-sided Fisher exact\
\ test. The --onesided\n argument can be specified for\
\ performing one-sided test, and\n the --type_filter\
\ argument can be specified so that only \"dup\"\n or\
\ \"del\" is compared between cases and controls.--exclude_heterosomic:\
\ exclude CNV calls from chromosomes showing evidence of heterosomic\
\ abberations from a given file containing CNV calls. An\n \
\ purely empirical method is applied in this procedure, although\n\
\ I recommended always manually examine the patterns\
\ of BAF to\n determine whether heterosomic abberation\
\ is present in a particular sample, if the sample size is relatively\
\ small (<100)."
prompt: Analyse type with cnv calls file
format: ( "" , " && detect_cnv.pl " + str(value) )[ value is not None
and value !=vdef]
simple: true
argpos: 10
name: rawcnv
command: false
type: !mobyle/stringtype
default: 'null'
options:
- {label: Choice, value: 'null'}
- {label: Trio-based CNV calling (trio), value: --trio}
- {label: Posterior CNV calls for quartet (quartet), value: --quartet}
- {label: Case-control comparison of per-marker CNV frequency (cctest),
value: --cctest}
- {label: Empirically exclude CNVs in heterosomic chromosomes (exclude_heterosomic),
value: --exclude_heterosomic}
- !mobyle/inputprogramparameter
comment: Specify an output file prefix.
prompt: Input file name
format: '" " + infile + ".*"'
argpos: 18
name: infile_name
precond:
'#or':
- {type: --test}
- {type: --joint}
- {type: --validate}
- {type: --summary}
- {rawcnv: --trio}
- {rawcnv: --quartet}
- {rawcnv: --cctest}
- {rawcnv: --exclude_heterosomic}
command: false
hidden: true
type: !mobyle/stringtype {}
- !mobyle/inputprogramparameter
comment: "A file containing CNV calls, that could be generated by the\n\
\ -test operation of this program: trio, quartet, exclude_heterosomic,\
\ cctest"
prompt: CNV calls file (cnv)
format: ( "" , " --cnv " + str(value) )[ value is not None]
simple: true
argpos: 12
name: cnvfile
precond:
rawcnv: {'#ne': None}
command: false
- !mobyle/inputprogramparameter
comment: "Specify an output file prefix. By default the output filename\n\
\ starts with \"gengen\"."
prompt: Output CNV file name
format: '" --out " + infile + "_rawcnv "'
argpos: 12
name: out_cnv_filename
precond:
'#and':
- {type: --test}
- infile
command: false
hidden: true
type: !mobyle/stringtype {}
- !mobyle/inputprogramparameter
comment: "Specify a HMM model file containing elements necessary for\n\
\ specifying the hidden Markov model for CNV calling:\
\ test, validate, joint, trio, quartet"
prompt: HMM model (hmm)
format: ( "" , " --hmm /path/to/penncnv/executables/dir/" + str(value)
)[ value is not None]
simple: true
argpos: 11
mandatory: true
name: hmmmodel
precond:
'#and':
- '#or':
- type: {'#ne': None}
- rawcnv: {'#ne': None}
- '#and':
- type: {'#ne': --summary}
- '#and':
- rawcnv: {'#ne': --cctest}
- rawcnv: {'#ne': --exclude_heterosomic}
command: false
type: !mobyle/stringtype
default: 'null'
options:
- {label: Choose an HMM model, value: 'null'}
- {label: hhall.hmm, value: hhall.hmm}
- {label: hh550.hmm, value: hh550.hmm}
- !mobyle/inputprogramparameter
comment: "A population frequency of B allele file containing chromosome\n\
\ coordinates of each SNP, as well as the frequency\
\ of B allele\n in a large reference population for\
\ this SNP: test, validate, joint, summary, trio, quartet, cctest"
prompt: Population frequency for B allelel file (pfb)
format: ( "" , " --pfb /path/to/penncnv/shared/data/dir/" + str(value)
)[ value is not None]
simple: true
argpos: 11
mandatory: true
name: pfb
precond:
'#and':
- '#or':
- type: {'#ne': None}
- rawcnv: {'#ne': None}
- rawcnv: {'#ne': --exclude_heterosomic}
command: false
type: !mobyle/stringtype
default: 'null'
options:
- {label: Choose an population frequency, value: 'null'}
- {label: hhall.hg18.pfb, value: hhall.hg18.pfb}
- {label: hh550.hg18.pfb, value: hh550.hg18.pfb}
- {label: hc12v1.hg18.pfb, value: hc12v1.hg18.pfb}
- {label: ho1v1.hg18.pfb, value: ho1v1.hg18.pfb}
- !mobyle/inputprogramparameter
comment: "A file that contains the GC percentage in the 1Mb region around\n\
\ each marker for the GC-model based signal adjustment:\
\ test, joint, validate, trio, quartet"
prompt: A file containing GC model for wave adjustment (gcmodel)
format: ( "" , " --gcmodel /path/to/penncnv/shared/data/dir/" + str(value)
)[ value is not None]
simple: true
argpos: 12
name: gcmodel
precond:
'#or':
- '#or':
- {type: --test}
- {type: --joint}
- {type: --validate}
- '#or':
- {rawcnv: --trio}
- {rawcnv: --quartet}
command: false
type: !mobyle/stringtype
default: 'null'
options:
- {label: Choose an GC model, value: 'null'}
- {label: hhall.hg18.gcmodel, value: hhall.hg18.gcmodel}
- {label: hh550.hg18.gcmodel, value: hh550.hg18.gcmodel}
- {label: hc12v1.hg18.gcmodel, value: hc12v1.hg18.gcmodel}
- {label: ho1v1.hg18.gcmodel, value: ho1v1.hg18.gcmodel}
- !mobyle/inputprogramparagraph
prompt: CNV output format
name: cnvoutput
argpos: 20
children:
- !mobyle/inputprogramparameter
prompt: Output format
format: ( "" , " && visualize_cnv.pl --format %s " % str(value) )[ value
is not None and value !=vdef]
name: outputformat
precond:
'#or':
- type: {'#ne': None}
- rawcnv: {'#ne': None}
command: false
type: !mobyle/stringtype
default: output
options:
- {label: Program output format, value: output}
- {label: BED format, value: bed}
- {label: TAB format, value: tab}
- !mobyle/inputprogramparameter
prompt: Output file name for visualize_cnv (.rawcnv)
format: '" --out " + infile + "_" + outputformat + "cnv " + infile + "_rawcnv
"'
argpos: 21
name: bed_cnv_infile
precond:
'#and':
- {type: --test}
- infile
- outputformat: {'#ne': output}
command: false
hidden: true
type: !mobyle/stringtype {}
- !mobyle/inputprogramparameter
prompt: Output file name for visualize_cnv (.out)
format: '" --out " + infile + "_" + outputformat + " detect_cnv.out "'
argpos: 21
name: bed_infile
precond:
'#and':
- '#or':
- type: {'#ne': None}
- rawcnv: {'#ne': None}
- type: {'#ne': --test}
- outputformat: {'#ne': output}
command: false
hidden: true
type: !mobyle/stringtype {}
- !mobyle/inputprogramparagraph
prompt: CNV output control
name: cnvcontrol
argpos: 12
children:
- !mobyle/inputprogramparameter
comment: "The minimum number of SNPs that a CNV call must contain to be\n\
\ in output: test, joint, validate, trio, quartet"
prompt: Minimum number of SNPs within CNV (minsnp)
format: ( "" , " --minsnp " + str(value) )[ value is not None and value
!= vdef]
name: minsnp
precond:
'#or':
- {type: --test}
- {rawcnv: --trio}
- {rawcnv: --quartet}
- {type: --joint}
- {type: --validate}
command: false
type: !mobyle/integertype {default: 3}
- !mobyle/inputprogramparameter
comment: "The minimum length of base pairs that a CNV call must contain\n\
\ to be in output: test, joint, validate, trio, quartet"
prompt: Minimum length of bp within CNV (minlength)
format: ( "" , " --minlength " + str(value) )[ value is not None ]
name: minlength
precond:
'#or':
- {type: --test}
- {rawcnv: --trio}
- {rawcnv: --quartet}
- {type: --joint}
- {type: --validate}
command: false
type: !mobyle/integertype {}
- !mobyle/inputprogramparameter
comment: "Minimum confidence score for a CNV call to\n be\
\ in output. This is an experimental feature, and the\n \
\ actual definition of \"confidence score\" may change in\n \
\ the future: test, validate"
prompt: Minimum confidence score of CNV (minconf)
format: ( "" , " --minconf " + str(value) )[ value is not None ]
name: minconf
precond:
'#or':
- {type: --test}
- {type: --validate}
command: false
type: !mobyle/integertype {}
- !mobyle/inputprogramparameter
comment: "Calculate a confidence score for each CNV call. This is an\n\
\ experimental feature, and the actual definition of\
\ \"confidence\n score\" may change in the future: test,\
\ validate"
prompt: Calculate confidence for each CNV (confidence)
format: ( "" , " --confidence " )[ value ]
name: confidence
precond:
'#or':
- {type: --test}
- {type: --validate}
command: false
type: !mobyle/booleantype {default: false}
- !mobyle/inputprogramparameter
comment: "Process chromosome X specifically. By default only autosomes\n\
\ will be processed by this program: test, joint, validate,\
\ trio, quartet."
prompt: Use chromosomeX-specific treatment (chrx)
format: ( "" , " --chrx " )[ value ]
name: chrx
precond:
'#or':
- {type: --test}
- {rawcnv: --trio}
- {rawcnv: --quartet}
- {type: --joint}
- {type: --validate}
command: false
type: !mobyle/booleantype {default: false}
- !mobyle/inputprogramparameter
comment: "A 2-column file containing filename and sex (male/female) for\n\
\ sex chromosome calling with chromosomeX-specific (chrx)\
\ argument. The first tab-\n delimited column should\
\ be the input signal file name, while\n the second\
\ tab-delimited column should be male or female.\n Alternatively,\
\ abbreviations including m (male), f (female), 1\n \
\ (male) or 2 (female) are also fine."
prompt: Filename and sex (male/female) for chromosomeX (sex)
format: ( "" , " --sex " + str(value) )[ value is not None]
argpos: 12
name: sexfile
precond:
'#and':
- chrx
- {'#not': bafxhet}
command: false
- !mobyle/inputprogramparameter
comment: "This argument specifies the BAF heterozygosity rate in chrX\
\ to\n predict the sex for a sample. Note that this\
\ rate is based on\n BAF values so it is not genotype\
\ heterozygosity rate and indeed\n quite different/smaller\
\ than that genotype heterozygosity rate.\n By default\
\ if >10% chrX markers have BAF values around 0.5, the\n \
\ sample is predicted as female. This threshold however does\
\ not\n work for Affymetrix genome-wide arrays (instead\
\ a 5% threshold\n is better used). For chrX CNV calling,\
\ rather than relying on\n PennCNV prediction of gender,\
\ it is always best to explicitely\n specify the sample\
\ sex using the -sexfile argument."
prompt: Minimum BAF heterozygosity rate to predict female gender when
file is not supplied (bafxhet)
format: ( "" , " --bafxhet " + str(value) )[ value is not None and value
!= vdef]
name: bafxhet
precond:
'#and':
- chrx
- {'#not': sexfile}
command: false
type: !mobyle/floattype {default: 0.1}
- !mobyle/inputprogramparagraph
prompt: Specific Validation-calling arguments (validate)
name: validateCalling
precond: {type: --validate}
argpos: 12
children:
- !mobyle/inputprogramparameter
comment: Specify the start SNP of a pre-specified region used in --validate
operation
prompt: Start SNP of a pre-specified region (startsnp)
format: ( "" , " --startsnp " + str(value) )[ value is not None ]
simple: true
mandatory: true
name: startsnp
precond: {'#not': candlist}
command: false
type: !mobyle/stringtype {}
- !mobyle/inputprogramparameter
comment: Specify the end SNP of a pre-specified region used in --validate
operation
prompt: End SNP of a pre-specified region (endsnp)
format: ( "" , " --endsnp " + str(value) )[ value is not None ]
simple: true
mandatory: true
name: endsnp
precond: {'#not': candlist}
command: false
type: !mobyle/stringtype {}
- !mobyle/inputprogramparameter
comment: "Specify the prior deletion allele frequency of a pre-specified\n\
\ region used in --validate operation (this frequency\
\ can be\n estimated from CNV calls by --test operation)"
prompt: Prior deletion frequency of a pre-specified region (delfreq)
format: ( "" , " --delfreq " + str(value) )[ value is not None ]
simple: true
mandatory: true
name: delfreq
precond: {'#not': candlist}
command: false
type: !mobyle/floattype {}
- !mobyle/inputprogramparameter
comment: "Specify the prior duplication allele frequency of a pre-specified\
\ region used \n in --validate operation (this frequency\
\ can be estimated from CNV calls by --test operation)"
prompt: Prior duplication frequency of a pre-specified region (dupfreq)
format: ( "" , " --dupfreq " + str(value) )[ value is not None ]
simple: true
mandatory: true
name: dupfreq
precond: {'#not': candlist}
command: false
type: !mobyle/floattype {}
- !mobyle/inputprogramparameter
comment: "Background CNV probability for any loci, with default value\
\ as\n 0.0001. This argument is useful in validation\
\ calling. When\n -delfreq/-dupfreq is not specified,\
\ the background frequency is\n used to calculate the\
\ prior probability of different copy number states."
prompt: Background CNV probability for any loci (backfreq)
format: ( "" , " --backfreq " + str(value) )[ value is not None ]
name: backfreq
precond:
'#and':
- {'#not': delfreq}
- {'#not': dupfreq}
command: false
type: !mobyle/floattype {default: 0.0001}
- !mobyle/inputprogramparameter
prompt: A file containing all candidate CNV regions to be validated (candlist)
format: ( "" , " --candlist " + str(value) )[ value is not None]
name: candlist
precond:
'#and':
- {'#not': startsnp}
- {'#not': endsnp}
- {'#not': delfreq}
- {'#not': dupfreq}
command: false
- !mobyle/inputprogramparagraph
prompt: Specific Case-control comparison arguments (cctest)
name: cctestCalling
precond: {rawcnv: --cctest}
argpos: 12
children:
- !mobyle/inputprogramparameter
comment: "A file containing phenotype informatoin for each individual,\
\ so\n that --cctest can be used to compare the frequency\
\ between\n cases and controls. Each line has two tab-delimited\
\ fields:\n file name and the phenotype. By default,\
\ \"control\" means\n control subjects, and other words\
\ means cases; however, the\n user can use --control_label\
\ argument to change the phenotype\n label for controls."
prompt: A file containing phenotype information for each input file (phenofile)
format: ( "" , " --phenofile " + str(value) )[ value is not None]
simple: true
argpos: 12
mandatory: true
name: phenofile
precond: {rawcnv: --cctest}
command: false
- !mobyle/inputprogramparameter
comment: "Specify the text label for control subjects in the phenotype\n\
\ file specified by the --phenofile argument. Normally\
\ the \"control\" is used to specify \n controls, and\
\ all other individuals\n are treated as cases. However,\
\ some times users may use 1 to\n denote controls and\
\ 2 to denote cases; in such situations the\n \"--control_label\
\ 1\" should be used for the --cctest operation."
prompt: The phenotype label for control subjects in the phenotype file
(control_label)
format: ( "" , " --control_label " + str(value) )[ value is not None ]
name: control_label
command: false
type: !mobyle/stringtype {}
- !mobyle/inputprogramparameter
prompt: Performed one-sided test (onesided)
format: ( "" , " --onesided " )[ value ]
name: onesided
command: false
type: !mobyle/booleantype {default: false}
- !mobyle/inputprogramparameter
comment: "Specify the particular types of CNVs to be used in the --cctest\n\
\ operation. By default both duplications and deletions\
\ are\n treated as a single group of CNVs and be used\
\ to compare cases\n and controls."
prompt: Used together to specify types of CNVs to be tested (type_filter)
format: ( "" , " --type_filter " + str(value) )[ value is not None and
value !=vdef ]
name: type_filter
command: false
type: !mobyle/stringtype
default: 'null'
options:
- {label: Both duplications and deletions, value: 'null'}
- {label: Duplications, value: dup}
- {label: Deletions, value: del}
- !mobyle/inputprogramparagraph
prompt: Misc options
name: miscOpt
argpos: 12
children:
- !mobyle/inputprogramparameter
comment: "The prior probability of 6 hidden states a given CNV call in\n\
\ father or mother. This is used for joint calling\
\ of trios or\n quartets. It is specified as six numbers\
\ separated by a comma that sum up to 1.\n The empirically\
\ derived default values actually work well: trio, quartet."
prompt: Prior belief on CN state for regions with CNV calls. Six numbers
separated by a comma (fmprior)
format: ( "" , " --fmprior " + str(value) )[ value is not None ]
name: fmprior
precond:
'#or':
- {rawcnv: --trio}
- {rawcnv: --quartet}
command: false
type: !mobyle/stringtype {}
- !mobyle/inputprogramparameter
comment: "Specify the probability that a given CNV is a de novo event\
\ for\n family-based CNV calling. The default is 0.0001.\
\ trio, quartet"
prompt: Prior belief on genome-wide de novo event rate (denovo_rate)
format: ( "" , " --denovo_rate " + str(value) )[ value is not None and
value != vdef]
name: denovo_rate
precond:
'#or':
- {rawcnv: --trio}
- {rawcnv: --quartet}
command: false
type: !mobyle/floattype {default: 0.0001}
- !mobyle/inputprogramparameter
comment: "This option is turned on by default. It adjust the log R Ratio\n\
\ values of the entire genome by a constant so that\
\ the median is\n zero: test, trio, quartet, joint,\
\ validate."
prompt: Adjust genome-wide LRR such that median equal 0 (nomedianadjust)
format: ( "" , " --nomedianadjust " )[ not value ]
name: medianadjust
precond:
'#or':
- {type: --test}
- {rawcnv: --trio}
- {rawcnv: --quartet}
- {type: --joint}
- {type: --validate}
command: false
type: !mobyle/booleantype {default: false}
- !mobyle/inputprogramparameter
comment: "This option is turned ON by default (new July 2008): it adjust\n\
\ the BAF values genome-wide such that the median value\
\ is 0.5."
prompt: Adjust genome-wide BAF such that median equal 0.5 (nobafadjust)
format: ( "" , " --nobafadjust " )[ not value ]
name: bafadjust
precond:
'#or':
- {type: --test}
- {rawcnv: --trio}
- {rawcnv: --quartet}
- {type: --joint}
- {type: --validate}
command: false
type: !mobyle/booleantype {default: false}
- !mobyle/inputprogramparameter
comment: "This option is turned ON by default: it adjust the SD values\
\ in\n HMM model such that the model fits the signal\
\ quality of the\n testing sample to reduce false positive\
\ calls"
prompt: Adjust SD of hidden Markov model based on input signal (nosdadjust)
format: ( "" , " --nosdadjust " )[ not value ]
name: sdadjust
precond:
'#or':
- {type: --test}
- {rawcnv: --trio}
- {rawcnv: --quartet}
- {type: --joint}
- {type: --validate}
command: false
type: !mobyle/booleantype {default: false}
- !mobyle/inputprogramparameter
comment: "This argument is turned ON by default. It requires the\n \
\ input/output buffer to flush immediately (that is, no\n\
\ input/output is buffered). When PennCNV is running\
\ remotely\n (for example, through a SSH connection)\
\ or when the output is\n redirected, this argument\
\ cause the program to report progress\n in real-time.\
\ When running PennCNV in parallel with many processes \n \
\ accessing disks simultaneously, this option should be\n \
\ turned off to decrease system overhead."
prompt: Flush input/output buffer (noflush)
format: ( "" , " --noflush " )[ not value ]
name: flush
command: false
type: !mobyle/booleantype {default: false}
- !mobyle/inputprogramparameter
prompt: Outfile for detect_cnv and Input file for visualize_cnv
format: '" --out detect_cnv.out "'
argpos: 17
name: outfile_name
precond:
'#and':
- '#or':
- type: {'#ne': None}
- rawcnv: {'#ne': None}
- type: {'#ne': --test}
command: false
hidden: true
type: !mobyle/stringtype {}
outputs: !mobyle/outputparagraph
children:
- !mobyle/outputprogramparameter
prompt: Split files
filenames: infile + ".*"
name: output_split_file
precond:
infile: {'#ne': None}
hidden: true
- !mobyle/outputprogramparagraph
prompt: Penncnv analyses
name: analyse
argpos: 10
children:
- !mobyle/outputprogramparameter
prompt: CNV file
filenames: infile + "_rawcnv"
name: output_cnv_file
precond:
'#and':
- {type: --test}
- infile
- !mobyle/outputprogramparagraph
prompt: CNV output format
name: cnvoutput
argpos: 20
children:
- !mobyle/outputprogramparameter
prompt: CNV calls file
filenames: infile + "_" + outputformat + "cnv"
name: bed_cnv_file
precond:
'#and':
- {type: --test}
- infile
- outputformat: {'#ne': output}
- !mobyle/outputprogramparameter
prompt: Output file
filenames: infile + "_" + outputformat
name: bed_file
precond:
'#and':
- '#or':
- type: {'#ne': None}
- rawcnv: {'#ne': None}
- type: {'#ne': --test}
- outputformat: {'#ne': output}
- !mobyle/outputprogramparameter
prompt: Output file
filenames: '"detect_cnv.out"'
name: output_file
precond:
type: {'#ne': --test}
output_type: stdout
- !mobyle/outputprogramparameter
prompt: Standard error
filenames: '"detect_cnv.err"'
name: stderr
type: !mobyle/formattedtype
data_terms: ['EDAM_data:2048']
command: kcolumn.pl
env: {}