Mercurial > repos > willmclaren > ensembl_vep
comparison variant_effect_predictor/Bio/EnsEMBL/Variation/BaseStructuralVariation.pm @ 0:21066c0abaf5 draft
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author | willmclaren |
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date | Fri, 03 Aug 2012 10:04:48 -0400 |
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1 =head1 LICENSE | |
2 | |
3 Copyright (c) 1999-2012 The European Bioinformatics Institute and | |
4 Genome Research Limited. All rights reserved. | |
5 | |
6 This software is distributed under a modified Apache license. | |
7 For license details, please see | |
8 | |
9 http://www.ensembl.org/info/about/code_licence.html | |
10 | |
11 =head1 CONTACT | |
12 | |
13 Please email comments or questions to the public Ensembl | |
14 developers list at <dev@ensembl.org>. | |
15 | |
16 Questions may also be sent to the Ensembl help desk at | |
17 <helpdesk@ensembl.org>. | |
18 | |
19 =cut | |
20 | |
21 # Ensembl module for Bio::EnsEMBL::Variation::BaseStructuralVariation | |
22 # | |
23 # Copyright (c) 2011 Ensembl | |
24 # | |
25 | |
26 | |
27 =head1 NAME | |
28 | |
29 Bio::EnsEMBL::Variation::BaseStructuralVariation - Ensembl representation of a structural variant. | |
30 | |
31 =head1 SYNOPSIS | |
32 | |
33 # Structural variation representing a CNV | |
34 $sv = Bio::EnsEMBL::Variation::StructuralVariation->new | |
35 (-variation_name => 'esv25480', | |
36 -class_so_term => 'structural_variant', | |
37 -source => 'DGVa', | |
38 -source_description => 'Database of Genomic Variants Archive', | |
39 -study_name => 'estd20', | |
40 -study_description => 'Conrad 2009 "Origins and functional impact of copy number variation in the human genome." PMID:19812545 [remapped from build NCBI36]', | |
41 -study_url => 'ftp://ftp.ebi.ac.uk/pub/databases/dgva/estd20_Conrad_et_al_2009', | |
42 -external_reference => 'pubmed/19812545'); | |
43 | |
44 ... | |
45 | |
46 print $sv->name(), ":", $sv->var_class(); | |
47 | |
48 =head1 DESCRIPTION | |
49 | |
50 This is a class representing a structural variation from the | |
51 ensembl-variation database. A structural variant may have a copy number variation, a tandem duplication, | |
52 an inversion of the sequence or others structural variations. | |
53 | |
54 The position of a StructuralVariation object on the Genome is represented | |
55 by the B<Bio::EnsEMBL::Variation::StructuralVariationFeature> class. | |
56 | |
57 =head1 METHODS | |
58 | |
59 =cut | |
60 | |
61 use strict; | |
62 use warnings; | |
63 | |
64 package Bio::EnsEMBL::Variation::BaseStructuralVariation; | |
65 | |
66 use Bio::EnsEMBL::Storable; | |
67 use Bio::EnsEMBL::Utils::Exception qw(throw warning deprecate); | |
68 use Bio::EnsEMBL::Utils::Argument qw(rearrange); | |
69 use Bio::EnsEMBL::Variation::Utils::Constants qw(%VARIATION_CLASSES); | |
70 use Bio::EnsEMBL::Variation::Failable; | |
71 our @ISA = ('Bio::EnsEMBL::Storable','Bio::EnsEMBL::Variation::Failable'); | |
72 | |
73 =head2 new | |
74 | |
75 Arg [-dbID] : | |
76 see superclass constructor | |
77 | |
78 Arg [-ADAPTOR] : | |
79 see superclass constructor | |
80 | |
81 Arg [-VARIATION_NAME] : | |
82 string - the name of the structural variant. | |
83 | |
84 Arg [-CLASS_SO_TERM] : | |
85 string - the sequence ontology term defining the class of the structural variant. | |
86 | |
87 Arg [-SOURCE] : | |
88 string - the name of the source where the structural variant comes from | |
89 | |
90 Arg [-SOURCE_DESCRIPTION] : | |
91 string - description of the source | |
92 | |
93 Arg [-TYPE] : | |
94 string - the class of structural variant e.g. 'copy_number_variation' | |
95 | |
96 Arg [-STUDY] : | |
97 object ref - the study object describing where the structural variant comes from. | |
98 | |
99 Arg [-VALIDATION_STATUS] : | |
100 string - the status of the structural variant (e.g. validated, not validated, ...) | |
101 | |
102 Arg [-IS_EVIDENCE] : | |
103 int - flag to inform whether the structural variant is a supporting evidence (1) or not (0). | |
104 | |
105 Arg [-IS_SOMATIC] : | |
106 int - flag to inform whether the structural variant is a somatic (1) or germline (0). | |
107 | |
108 Example for a structural variation: | |
109 $sv = Bio::EnsEMBL::Variation::StructuralVariation->new | |
110 (-variation_name => 'esv25480', | |
111 -class_so_term => 'copy_number_variation', | |
112 -source => 'DGVa', | |
113 -source_description => 'Database of Genomic Variants Archive', | |
114 | |
115 Description: Constructor. Instantiates a new structural variant object. | |
116 Returntype : Bio::EnsEMBL::Variation::StructuralVariation or | |
117 Bio::EnsEMBL::Variation::SupportingStructuralVariation | |
118 Exceptions : none | |
119 Caller : general | |
120 Status : At Risk | |
121 | |
122 =cut | |
123 | |
124 sub new { | |
125 my $caller = shift; | |
126 my $class = ref($caller) || $caller; | |
127 | |
128 my ( | |
129 $dbID, | |
130 $adaptor, | |
131 $var_name, | |
132 $source, | |
133 $source_version, | |
134 $source_description, | |
135 $class_so_term, | |
136 $study, | |
137 $validation_status, | |
138 $is_evidence, | |
139 $is_somatic | |
140 ) = rearrange([qw( | |
141 dbID | |
142 ADAPTOR | |
143 VARIATION_NAME | |
144 SOURCE | |
145 SOURCE_VERSION | |
146 SOURCE_DESCRIPTION | |
147 CLASS_SO_TERM | |
148 STUDY | |
149 VALIDATION_STATES | |
150 IS_EVIDENCE | |
151 IS_SOMATIC | |
152 )], @_); | |
153 | |
154 my $self = bless { | |
155 'dbID' => $dbID, | |
156 'adaptor' => $adaptor, | |
157 'variation_name' => $var_name, | |
158 'source' => $source, | |
159 'source_version' => $source_version, | |
160 'source_description' => $source_description, | |
161 'class_SO_term' => $class_so_term, | |
162 'study' => $study, | |
163 'validation_status' => $validation_status, | |
164 'is_evidence' => $is_evidence || 0, | |
165 'is_somatic' => $is_somatic || 0, | |
166 }; | |
167 return $self; | |
168 } | |
169 | |
170 | |
171 | |
172 sub new_fast { | |
173 my $class = shift; | |
174 my $hashref = shift; | |
175 return bless $hashref, $class; | |
176 } | |
177 | |
178 | |
179 =head2 display_id | |
180 | |
181 Arg [1] : none | |
182 Example : print $sv->display_id(), "\n"; | |
183 Description: Returns the 'display' identifier for this structural variant. | |
184 Returntype : string | |
185 Exceptions : none | |
186 Caller : webcode | |
187 Status : At Risk | |
188 | |
189 =cut | |
190 | |
191 sub display_id { | |
192 my $self = shift; | |
193 return $self->{'variation_name'} || ''; | |
194 } | |
195 | |
196 | |
197 | |
198 =head2 variation_name | |
199 | |
200 Arg [1] : string $newval (optional) | |
201 The new value to set the variation_name attribute to | |
202 Example : $variation_name = $obj->variation_name() | |
203 Description: Getter/Setter for the variation_name attribute. This is the | |
204 name of the variation associated with this feature. | |
205 Returntype : string | |
206 Exceptions : none | |
207 Caller : general | |
208 Status : Stable | |
209 | |
210 =cut | |
211 | |
212 sub variation_name{ | |
213 my $self = shift; | |
214 return $self->{'variation_name'} = shift if(@_); | |
215 return $self->{'variation_name'}; | |
216 } | |
217 | |
218 =head2 var_class | |
219 | |
220 Args : None | |
221 Example : my $sv_class = $sv->var_class() | |
222 Description : Getter/setter for the class of structural variant | |
223 ReturnType : String | |
224 Exceptions : none | |
225 Caller : General | |
226 Status : At Risk | |
227 | |
228 =cut | |
229 | |
230 sub var_class { | |
231 my $self = shift; | |
232 | |
233 unless ($self->{class_display_term}) { | |
234 my $display_term = $VARIATION_CLASSES{$self->{class_SO_term}}->{display_term}; | |
235 | |
236 warn "No display term for SO term: ".$self->{class_SO_term} unless $display_term; | |
237 | |
238 $self->{class_display_term} = $display_term || $self->{class_SO_term}; | |
239 } | |
240 | |
241 return $self->{class_display_term}; | |
242 } | |
243 | |
244 | |
245 =head2 class_SO_term | |
246 | |
247 Args : None | |
248 Example : my $sv_so_term = $svf->class_SO_term() | |
249 Description : Getter for the class of structural variant, returning the SO term | |
250 ReturnType : String | |
251 Exceptions : none | |
252 Caller : General | |
253 Status : At Risk | |
254 | |
255 =cut | |
256 | |
257 sub class_SO_term { | |
258 my $self = shift; | |
259 | |
260 return $self->{class_SO_term}; | |
261 } | |
262 | |
263 | |
264 =head2 source | |
265 | |
266 Arg [1] : string $source (optional) | |
267 The new value to set the source attribute to | |
268 Example : $source = $svf->source() | |
269 Description: Getter/Setter for the source attribute | |
270 Returntype : string | |
271 Exceptions : none | |
272 Caller : general | |
273 Status : At Risk | |
274 | |
275 =cut | |
276 | |
277 sub source { | |
278 my $self = shift; | |
279 return $self->{'source'} = shift if(@_); | |
280 return $self->{'source'}; | |
281 } | |
282 | |
283 | |
284 =head2 source_version | |
285 | |
286 Arg [1] : string $source_version (optional) | |
287 The new value to set the source_version attribute to | |
288 Example : $source_version = $svf->source_version() | |
289 Description: Getter/Setter for the source_version attribute | |
290 Returntype : string | |
291 Exceptions : none | |
292 Caller : general | |
293 Status : At Risk | |
294 | |
295 =cut | |
296 | |
297 sub source_version { | |
298 my $self = shift; | |
299 return $self->{'source_version'} = shift if(@_); | |
300 return $self->{'source_version'}; | |
301 } | |
302 | |
303 | |
304 =head2 source_description | |
305 | |
306 Arg [1] : string $source_description (optional) | |
307 The new value to set the source_description attribute to | |
308 Example : $source_description = $svf->source_description() | |
309 Description: Getter/Setter for the source_description attribute | |
310 Returntype : string | |
311 Exceptions : none | |
312 Caller : general | |
313 Status : At Risk | |
314 | |
315 =cut | |
316 | |
317 sub source_description { | |
318 my $self = shift; | |
319 return $self->{'source_description'} = shift if(@_); | |
320 return $self->{'source_description'}; | |
321 } | |
322 | |
323 | |
324 =head2 get_all_validation_states | |
325 | |
326 Arg [1] : none | |
327 Example : my @vstates = @{$v->get_all_validation_states()}; | |
328 Description: Retrieves all validation states for this structural variation. Current | |
329 possible validation statuses are 'validated','not validated', | |
330 'high quality' | |
331 Returntype : reference to list of strings | |
332 Exceptions : none | |
333 Caller : general | |
334 Status : At Risk | |
335 | |
336 =cut | |
337 | |
338 sub get_all_validation_states { | |
339 my $self = shift; | |
340 | |
341 return $self->{'validation_status'} || []; | |
342 } | |
343 | |
344 | |
345 =head2 is_evidence | |
346 | |
347 Arg [1] : int $flag (optional) | |
348 Example : $is_evidence = $obj->is_evidence() | |
349 Description: Getter/Setter of a flag to inform whether the structural variant is a | |
350 supporting evidence (1) or not (0). | |
351 Returntype : int | |
352 Exceptions : none | |
353 Caller : general | |
354 Status : Stable | |
355 | |
356 =cut | |
357 | |
358 sub is_evidence{ | |
359 my $self = shift; | |
360 return $self->{'is_evidence'} = shift if(@_); | |
361 return $self->{'is_evidence'}; | |
362 } | |
363 | |
364 =head2 is_somatic | |
365 | |
366 Arg [1] : int $flag (optional) | |
367 Example : $is_somatic = $obj->is_somatic() | |
368 Description: Getter/Setter of a flag to inform whether the structural variant is somatic (1) or germline (0). | |
369 Returntype : int | |
370 Exceptions : none | |
371 Caller : general | |
372 Status : Stable | |
373 | |
374 =cut | |
375 | |
376 sub is_somatic{ | |
377 my $self = shift; | |
378 return $self->{'is_somatic'} = shift if(@_); | |
379 return $self->{'is_somatic'}; | |
380 } | |
381 | |
382 | |
383 =head2 study | |
384 | |
385 Arg [1] : Bio::EnsEMBL::Variation::Study (optional) | |
386 Example : $study = $sv->study() | |
387 Description: Getter/Setter for the study object | |
388 Returntype : Bio::EnsEMBL::Variation::Study | |
389 Exceptions : none | |
390 Caller : general | |
391 Status : At Risk | |
392 | |
393 =cut | |
394 | |
395 sub study { | |
396 my $self = shift; | |
397 return $self->{'study'} = shift if(@_); | |
398 return $self->{'study'}; | |
399 } | |
400 | |
401 | |
402 =head2 study_name | |
403 | |
404 Arg [1] : string $study (optional) | |
405 The new value to set the study attribute to | |
406 Example : $study = $sv->study() | |
407 Description: Getter/Setter for the study attribute | |
408 Returntype : string | |
409 Exceptions : none | |
410 Caller : general | |
411 Status : Deprecated | |
412 | |
413 =cut | |
414 | |
415 sub study_name { | |
416 my $self = shift; | |
417 deprecate('Use the method "study" instead (returns a Bio::EnsEMBL::Variation::Study object).'); | |
418 return undef if (!$self->study); | |
419 return $self->study->name = shift if(@_); | |
420 return $self->study->name; | |
421 } | |
422 | |
423 | |
424 | |
425 =head2 study_description | |
426 | |
427 Arg [1] : string $study_description (optional) | |
428 The new value to set the study_description attribute to | |
429 Example : $study_description = $sv->study_description() | |
430 Description: Getter/Setter for the study_description attribute | |
431 Returntype : string | |
432 Exceptions : none | |
433 Caller : general | |
434 Status : Deprecated | |
435 | |
436 =cut | |
437 | |
438 sub study_description { | |
439 my $self = shift; | |
440 deprecate('Use the method "study" instead (returns a Bio::EnsEMBL::Variation::Study object).'); | |
441 return undef if (!$self->study); | |
442 return $self->study->description = shift if(@_); | |
443 return $self->study->description; | |
444 } | |
445 | |
446 =head2 study_url | |
447 | |
448 Arg [1] : string $newval (optional) | |
449 The new value to set the study_url attribute to | |
450 Example : $paper = $obj->study_url() | |
451 Description: Getter/Setter for the study_url attribute.This is the link to the website where the data are stored. | |
452 Returntype : string | |
453 Exceptions : none | |
454 Caller : general | |
455 Status : Deprecated | |
456 | |
457 =cut | |
458 | |
459 sub study_url{ | |
460 my $self = shift; | |
461 deprecate('Use the method "study" instead (returns a Bio::EnsEMBL::Variation::Study object).'); | |
462 return undef if (!$self->study); | |
463 return $self->study->url = shift if(@_); | |
464 return $self->study->url; | |
465 } | |
466 | |
467 | |
468 =head2 external_reference | |
469 | |
470 Arg [1] : string $newval (optional) | |
471 The new value to set the external reference attribute to | |
472 Example : $paper = $obj->external_reference() | |
473 Description: Getter/Setter for the external reference attribute. This is the | |
474 pubmed/id or project name associated with this study. | |
475 Returntype : string | |
476 Exceptions : none | |
477 Caller : general | |
478 Status : Deprecated | |
479 | |
480 =cut | |
481 | |
482 sub external_reference{ | |
483 my $self = shift; | |
484 deprecate('Use the method "study" instead (returns a Bio::EnsEMBL::Variation::Study object).'); | |
485 return undef if (!$self->study); | |
486 return $self->study->external_reference = shift if(@_); | |
487 return $self->study->external_reference; | |
488 } | |
489 | |
490 | |
491 =head2 get_all_StructuralVariationFeatures | |
492 | |
493 Args : None | |
494 Example : $svfs = $sv->get_all_StructuralVariationFeatures(); | |
495 Description : Retrieves all StructuralVariationFeature for this structural variant | |
496 ReturnType : reference to list of Bio::EnsEMBL::Variation::StructuralVariationFeature | |
497 Exceptions : None | |
498 Caller : general | |
499 Status : At Risk | |
500 | |
501 =cut | |
502 | |
503 sub get_all_StructuralVariationFeatures{ | |
504 my $self = shift; | |
505 | |
506 if(defined $self->{'adaptor'}) { | |
507 | |
508 # get structural variation feature adaptor | |
509 my $svf_adaptor = $self->{'adaptor'}->db()->get_StructuralVariationFeatureAdaptor(); | |
510 | |
511 return $svf_adaptor->fetch_all_by_StructuralVariation($self); | |
512 } | |
513 else { | |
514 warn("No variation database attached"); | |
515 return []; | |
516 } | |
517 } | |
518 | |
519 | |
520 =head2 get_all_StructuralVariationAnnotations | |
521 | |
522 Args : None | |
523 Example : $svas = $sv->get_all_StructuralVariationAnnotations(); | |
524 Description : Retrieves all get_all_StructuralVariationAnnotation for this structural variant | |
525 ReturnType : reference to list of Bio::EnsEMBL::Variation::StructuralVariationAnnotation | |
526 Exceptions : None | |
527 Caller : general | |
528 Status : At Risk | |
529 | |
530 =cut | |
531 | |
532 sub get_all_StructuralVariationAnnotations{ | |
533 my $self = shift; | |
534 | |
535 if(defined $self->{'adaptor'}) { | |
536 | |
537 # get structural variation annotation adaptor | |
538 my $sva_adaptor = $self->{'adaptor'}->db()->get_StructuralVariationAnnotationAdaptor(); | |
539 | |
540 return $sva_adaptor->fetch_all_by_StructuralVariation($self); | |
541 } | |
542 else { | |
543 warn("No variation database attached"); | |
544 return []; | |
545 } | |
546 } | |
547 | |
548 | |
549 =head2 summary_as_hash | |
550 | |
551 Example : $sv_summary = $sv->summary_as_hash(); | |
552 Description : Retrieves a textual summary of this StructuralVariation object. | |
553 Returns : hashref of descriptive strings | |
554 | |
555 =cut | |
556 | |
557 sub summary_as_hash { | |
558 my $self = shift; | |
559 my %summary; | |
560 $summary{'display_id'} = $self->display_id; | |
561 $summary{'study_name'} = $self->study_name; | |
562 $summary{'study_description'} = $self->study_description; | |
563 $summary{'class'} = $self->var_class; | |
564 return \%summary; | |
565 | |
566 } | |
567 | |
568 1; |