@jbrowse/plugin-variants 2.3.1 → 2.3.3

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Files changed (51) hide show
  1. package/dist/VcfAdapter/VcfAdapter.d.ts +1 -2
  2. package/dist/VcfAdapter/VcfAdapter.js +2 -2
  3. package/dist/VcfAdapter/VcfAdapter.js.map +1 -1
  4. package/dist/{VcfTabixAdapter/VcfFeature.d.ts → VcfFeature/index.d.ts} +3 -15
  5. package/dist/VcfFeature/index.js +59 -0
  6. package/dist/VcfFeature/index.js.map +1 -0
  7. package/dist/VcfFeature/util.d.ts +7 -0
  8. package/dist/VcfFeature/util.js +129 -0
  9. package/dist/VcfFeature/util.js.map +1 -0
  10. package/dist/VcfTabixAdapter/VcfTabixAdapter.d.ts +2 -19
  11. package/dist/VcfTabixAdapter/VcfTabixAdapter.js +1 -35
  12. package/dist/VcfTabixAdapter/VcfTabixAdapter.js.map +1 -1
  13. package/dist/index.d.ts +1 -1
  14. package/dist/index.js +1 -1
  15. package/dist/index.js.map +1 -1
  16. package/esm/VcfAdapter/VcfAdapter.d.ts +1 -2
  17. package/esm/VcfAdapter/VcfAdapter.js +2 -2
  18. package/esm/VcfAdapter/VcfAdapter.js.map +1 -1
  19. package/esm/{VcfTabixAdapter/VcfFeature.d.ts → VcfFeature/index.d.ts} +3 -15
  20. package/esm/VcfFeature/index.js +56 -0
  21. package/esm/VcfFeature/index.js.map +1 -0
  22. package/esm/VcfFeature/util.d.ts +7 -0
  23. package/esm/VcfFeature/util.js +123 -0
  24. package/esm/VcfFeature/util.js.map +1 -0
  25. package/esm/VcfTabixAdapter/VcfTabixAdapter.d.ts +2 -19
  26. package/esm/VcfTabixAdapter/VcfTabixAdapter.js +1 -35
  27. package/esm/VcfTabixAdapter/VcfTabixAdapter.js.map +1 -1
  28. package/esm/index.d.ts +1 -1
  29. package/esm/index.js +1 -1
  30. package/esm/index.js.map +1 -1
  31. package/package.json +3 -3
  32. package/src/VariantFeatureWidget/VariantFeatureWidget.test.tsx +42 -0
  33. package/src/VariantFeatureWidget/__snapshots__/{VariantFeatureWidget.test.js.snap → VariantFeatureWidget.test.tsx.snap} +1 -1
  34. package/src/VcfAdapter/VcfAdapter.test.ts +4 -5
  35. package/src/VcfAdapter/VcfAdapter.ts +3 -4
  36. package/src/VcfFeature/index.test.ts +132 -0
  37. package/src/VcfFeature/index.ts +104 -0
  38. package/src/VcfFeature/util.ts +140 -0
  39. package/src/VcfTabixAdapter/VcfTabixAdapter.test.ts +9 -10
  40. package/src/VcfTabixAdapter/VcfTabixAdapter.ts +3 -51
  41. package/src/__snapshots__/{index.test.js.snap → index.test.ts.snap} +0 -0
  42. package/src/{index.test.js → index.test.ts} +0 -1
  43. package/src/index.ts +1 -1
  44. package/dist/VcfTabixAdapter/VcfFeature.js +0 -187
  45. package/dist/VcfTabixAdapter/VcfFeature.js.map +0 -1
  46. package/esm/VcfTabixAdapter/VcfFeature.js +0 -184
  47. package/esm/VcfTabixAdapter/VcfFeature.js.map +0 -1
  48. package/src/LinearVariantDisplay/configSchema.test.js +0 -55
  49. package/src/VariantFeatureWidget/VariantFeatureWidget.test.js +0 -41
  50. package/src/VcfTabixAdapter/VcfFeature.test.ts +0 -118
  51. package/src/VcfTabixAdapter/VcfFeature.ts +0 -250
@@ -0,0 +1,140 @@
1
+ import VCF, { parseBreakend } from '@gmod/vcf'
2
+
3
+ const altTypeToSO: { [key: string]: string | undefined } = {
4
+ DEL: 'deletion',
5
+ INS: 'insertion',
6
+ DUP: 'duplication',
7
+ INV: 'inversion',
8
+ INVDUP: 'inverted duplication',
9
+ CNV: 'copy_number_variation',
10
+ TRA: 'translocation',
11
+ 'DUP:TANDEM': 'tandem_duplication',
12
+ NON_REF: 'sequence_variant',
13
+ '*': 'sequence_variant',
14
+ }
15
+
16
+ /**
17
+ * Get a sequence ontology (SO) term that describes the variant type
18
+ */
19
+ export function getSOTermAndDescription(
20
+ ref: string,
21
+ alt: string[],
22
+ parser: VCF,
23
+ ): string[] {
24
+ // it's just a remark if there are no alternate alleles
25
+ if (!alt || alt.length === 0) {
26
+ return ['remark', 'no alternative alleles']
27
+ }
28
+
29
+ const soTerms = new Set<string>()
30
+ let descriptions = new Set<string>()
31
+ alt.forEach(a => {
32
+ let [soTerm, description] = getSOAndDescFromAltDefs(ref, a, parser)
33
+ if (!soTerm) {
34
+ ;[soTerm, description] = getSOAndDescByExamination(ref, a)
35
+ }
36
+ if (soTerm && description) {
37
+ soTerms.add(soTerm)
38
+ descriptions.add(description)
39
+ }
40
+ })
41
+
42
+ // Combine descriptions like ["SNV G -> A", "SNV G -> T"] to ["SNV G -> A,T"]
43
+ if (descriptions.size > 1) {
44
+ const descs = [...descriptions]
45
+ const prefixes = new Set(
46
+ descs.map(desc => {
47
+ const prefix = desc.split('->')
48
+ return prefix[1] ? prefix[0] : desc
49
+ }),
50
+ )
51
+
52
+ descriptions = new Set(
53
+ [...prefixes].map(prefix => {
54
+ const suffixes = descs
55
+ .map(desc => {
56
+ const pref = desc.split('-> ')
57
+ return pref[1] && pref[0] === prefix ? pref[1] : ''
58
+ })
59
+ .filter(f => !!f)
60
+
61
+ return suffixes.length ? prefix + '-> ' + suffixes.join(',') : prefix
62
+ }),
63
+ )
64
+ }
65
+ if (soTerms.size) {
66
+ return [[...soTerms].join(','), [...descriptions].join(',')]
67
+ }
68
+ return []
69
+ }
70
+
71
+ export function getSOAndDescFromAltDefs(
72
+ ref: string,
73
+ alt: string,
74
+ parser: VCF,
75
+ ): string[] {
76
+ if (typeof alt === 'string' && !alt.startsWith('<')) {
77
+ return []
78
+ }
79
+
80
+ // look for a definition with an SO type for this
81
+ let soTerm = altTypeToSO[alt]
82
+ // if no SO term but ALT is in metadata, assume sequence_variant
83
+ if (!soTerm && parser.getMetadata('ALT', alt)) {
84
+ soTerm = 'sequence_variant'
85
+ }
86
+ if (soTerm) {
87
+ return [soTerm, alt]
88
+ }
89
+
90
+ // try to look for a definition for a parent term if we can
91
+ const modAlt = alt.split(':')
92
+ if (modAlt.length > 1) {
93
+ return getSOAndDescFromAltDefs(
94
+ ref,
95
+ `<${modAlt.slice(0, modAlt.length - 1).join(':')}>`,
96
+ parser,
97
+ )
98
+ }
99
+
100
+ // no parent
101
+ return []
102
+ }
103
+
104
+ // note: term SNV is used instead of SNP because SO definition of SNP says
105
+ // abundance must be at least 1% in population, and can't be sure we meet
106
+ // that
107
+ export function getSOAndDescByExamination(ref: string, alt: string) {
108
+ const bnd = parseBreakend(alt)
109
+ if (bnd) {
110
+ return ['breakend', alt]
111
+ } else if (ref.length === 1 && alt.length === 1) {
112
+ return ['SNV', makeDescriptionString('SNV', ref, alt)]
113
+ } else if (alt === '<INS>') {
114
+ return ['insertion', alt]
115
+ } else if (alt === '<DEL>') {
116
+ return ['deletion', alt]
117
+ } else if (alt === '<INV>') {
118
+ return ['deletion', alt]
119
+ } else if (alt === '<TRA>') {
120
+ return ['translocation', alt]
121
+ } else if (alt.includes('<')) {
122
+ return ['sv', alt]
123
+ } else if (ref.length === alt.length) {
124
+ if (ref.split('').reverse().join('') === alt) {
125
+ return ['inversion', makeDescriptionString('inversion', ref, alt)]
126
+ } else {
127
+ return ['substitution', makeDescriptionString('substitution', ref, alt)]
128
+ }
129
+ } else if (ref.length <= alt.length) {
130
+ return ['insertion', makeDescriptionString('insertion', ref, alt)]
131
+ } else if (ref.length > alt.length) {
132
+ return ['deletion', makeDescriptionString('deletion', ref, alt)]
133
+ }
134
+
135
+ return ['indel', makeDescriptionString('indel', ref, alt)]
136
+ }
137
+
138
+ function makeDescriptionString(soTerm: string, ref: string, alt: string) {
139
+ return `${soTerm} ${ref} -> ${alt}`
140
+ }
@@ -1,4 +1,5 @@
1
1
  import { toArray } from 'rxjs/operators'
2
+ import { firstValueFrom } from 'rxjs'
2
3
  import Adapter from './VcfTabixAdapter'
3
4
  import configSchema from './configSchema'
4
5
 
@@ -46,25 +47,23 @@ test('adapter can fetch variants from volvox.vcf.gz', async () => {
46
47
  expect(names).toEqual(csiNames)
47
48
  expect(names).toMatchSnapshot()
48
49
 
49
- const features = adapter.getFeatures({
50
+ const feat = adapter.getFeatures({
50
51
  refName: 'ctgA',
51
52
  start: 0,
52
53
  end: 20000,
53
54
  })
54
55
 
55
- const featuresArray = await features.pipe(toArray()).toPromise()
56
- const csiFeaturesArray = await csiFeatures.pipe(toArray()).toPromise()
57
- expect(featuresArray.slice(0, 5)).toMatchSnapshot()
58
- expect(csiFeaturesArray.slice(0, 5)).toEqual(featuresArray.slice(0, 5))
56
+ const featArray = await firstValueFrom(feat.pipe(toArray()))
57
+ const csiFeaturesArray = await firstValueFrom(csiFeatures.pipe(toArray()))
58
+ expect(featArray.slice(0, 5)).toMatchSnapshot()
59
+ expect(csiFeaturesArray.slice(0, 5)).toEqual(featArray.slice(0, 5))
59
60
 
60
- const featuresNonExist = adapter.getFeatures({
61
+ const featNonExist = adapter.getFeatures({
61
62
  refName: 'ctgC',
62
63
  start: 0,
63
64
  end: 20000,
64
65
  })
65
66
 
66
- const featuresArrayNonExist = await featuresNonExist
67
- .pipe(toArray())
68
- .toPromise()
69
- expect(featuresArrayNonExist).toEqual([])
67
+ const featArrayNonExist = await firstValueFrom(featNonExist.pipe(toArray()))
68
+ expect(featArrayNonExist).toEqual([])
70
69
  })
@@ -2,26 +2,18 @@ import {
2
2
  BaseFeatureDataAdapter,
3
3
  BaseOptions,
4
4
  } from '@jbrowse/core/data_adapters/BaseAdapter'
5
- import {
6
- FileLocation,
7
- NoAssemblyRegion,
8
- Region,
9
- } from '@jbrowse/core/util/types'
5
+ import { FileLocation, NoAssemblyRegion } from '@jbrowse/core/util/types'
10
6
  import { openLocation } from '@jbrowse/core/util/io'
11
- import { bytesForRegions } from '@jbrowse/core/util'
12
7
  import { ObservableCreate } from '@jbrowse/core/util/rxjs'
13
- import { Feature } from '@jbrowse/core/util/simpleFeature'
8
+ import { Feature } from '@jbrowse/core/util'
14
9
  import { TabixIndexedFile } from '@gmod/tabix'
15
10
  import VcfParser from '@gmod/vcf'
16
- import { Observer } from 'rxjs'
17
- import { GenericFilehandle } from 'generic-filehandle'
18
11
 
19
12
  // local
20
- import VcfFeature from './VcfFeature'
13
+ import VcfFeature from '../VcfFeature'
21
14
 
22
15
  export default class extends BaseFeatureDataAdapter {
23
16
  private configured?: Promise<{
24
- filehandle: GenericFilehandle
25
17
  vcf: TabixIndexedFile
26
18
  parser: VcfParser
27
19
  }>
@@ -44,7 +36,6 @@ export default class extends BaseFeatureDataAdapter {
44
36
 
45
37
  const header = await vcf.getHeader()
46
38
  return {
47
- filehandle,
48
39
  vcf,
49
40
  parser: new VcfParser({ header }),
50
41
  }
@@ -95,44 +86,5 @@ export default class extends BaseFeatureDataAdapter {
95
86
  }, opts.signal)
96
87
  }
97
88
 
98
- /**
99
- * Checks if the data source has data for the given reference sequence,
100
- * and then gets the features in the region if it does
101
- *
102
- * Currently this just calls getFeatureInRegion for each region. Adapters that
103
- * are frequently called on multiple regions simultaneously may want to
104
- * implement a more efficient custom version of this method.
105
- *
106
- * Also includes a bit of extra logging to warn when fetching a large portion
107
- * of a VCF
108
- * @param regions - Regions
109
- * @param opts - Feature adapter options
110
- * @returns Observable of Feature objects in the regions
111
- */
112
- public getFeaturesInMultipleRegions(
113
- regions: Region[],
114
- opts: BaseOptions = {},
115
- ) {
116
- return ObservableCreate<Feature>(async (observer: Observer<Feature>) => {
117
- const { vcf } = await this.configure()
118
-
119
- // @ts-ignore
120
- const bytes = await bytesForRegions(regions, vcf.index)
121
- const { filehandle } = await this.configure()
122
- const stat = await filehandle.stat()
123
- let pct = Math.round((bytes / stat.size) * 100)
124
- if (pct > 100) {
125
- // this is just a bad estimate, make 100% if it goes over
126
- pct = 100
127
- }
128
- if (pct > 60) {
129
- console.warn(
130
- `getFeaturesInMultipleRegions fetching ${pct}% of VCF file, but whole-file streaming not yet implemented`,
131
- )
132
- }
133
- super.getFeaturesInMultipleRegions(regions, opts).subscribe(observer)
134
- })
135
- }
136
-
137
89
  public freeResources(/* { region } */): void {}
138
90
  }
@@ -5,7 +5,6 @@ import { getSnapshot } from 'mobx-state-tree'
5
5
  import ThisPlugin from '.'
6
6
 
7
7
  test('plugin in a stock JBrowse', () => {
8
- console.warn = jest.fn()
9
8
  const pluginManager = new PluginManager([
10
9
  new ThisPlugin(),
11
10
  new Alignments(),
package/src/index.ts CHANGED
@@ -24,4 +24,4 @@ export default class VariantsPlugin extends Plugin {
24
24
  }
25
25
  }
26
26
 
27
- export { default as VcfFeature } from './VcfTabixAdapter/VcfFeature'
27
+ export { default as VcfFeature } from './VcfFeature'
@@ -1,187 +0,0 @@
1
- "use strict";
2
- Object.defineProperty(exports, "__esModule", { value: true });
3
- const vcf_1 = require("@gmod/vcf");
4
- class VCFFeature {
5
- // eslint-disable-next-line @typescript-eslint/no-explicit-any
6
- constructor(args) {
7
- this.variant = args.variant;
8
- this.parser = args.parser;
9
- this.data = this.dataFromVariant(this.variant);
10
- this._id = args.id;
11
- }
12
- // eslint-disable-next-line @typescript-eslint/no-explicit-any
13
- get(field) {
14
- return field === 'samples'
15
- ? this.variant.SAMPLES
16
- : this.data[field] || this.variant[field];
17
- }
18
- set() { }
19
- parent() {
20
- return undefined;
21
- }
22
- children() {
23
- return undefined;
24
- }
25
- tags() {
26
- const t = [
27
- ...Object.keys(this.data),
28
- ...Object.keys(this.variant),
29
- 'samples',
30
- ];
31
- return t;
32
- }
33
- id() {
34
- return this._id;
35
- }
36
- dataFromVariant(variant) {
37
- const { REF, ALT, POS, CHROM, INFO, ID } = variant;
38
- const start = POS - 1;
39
- const [SO_term, description] = this._getSOTermAndDescription(REF, ALT);
40
- const isTRA = ALT === null || ALT === void 0 ? void 0 : ALT.some(f => f === '<TRA>');
41
- const isSymbolic = ALT === null || ALT === void 0 ? void 0 : ALT.some(f => f.indexOf('<') !== -1);
42
- return {
43
- refName: CHROM,
44
- start,
45
- end: isSymbolic && INFO.END && !isTRA ? +INFO.END[0] : start + REF.length,
46
- description,
47
- type: SO_term,
48
- name: ID === null || ID === void 0 ? void 0 : ID.join(','),
49
- aliases: ID && ID.length > 1 ? variant.ID.slice(1) : undefined,
50
- };
51
- }
52
- /**
53
- * Get a sequence ontology (SO) term that describes the variant type
54
- */
55
- _getSOTermAndDescription(ref, alt) {
56
- // it's just a remark if there are no alternate alleles
57
- if (!alt || alt.length === 0) {
58
- return ['remark', 'no alternative alleles'];
59
- }
60
- const soTerms = new Set();
61
- let descriptions = new Set();
62
- alt.forEach(a => {
63
- let [soTerm, description] = this._getSOAndDescFromAltDefs(ref, a);
64
- if (!soTerm) {
65
- ;
66
- [soTerm, description] = this._getSOAndDescByExamination(ref, a);
67
- }
68
- if (soTerm && description) {
69
- soTerms.add(soTerm);
70
- descriptions.add(description);
71
- }
72
- });
73
- // Combine descriptions like ["SNV G -> A", "SNV G -> T"] to ["SNV G -> A,T"]
74
- if (descriptions.size > 1) {
75
- const prefixes = new Set([...descriptions].map(desc => {
76
- const prefix = desc.split('->');
77
- return prefix[1] ? prefix[0] : desc;
78
- }));
79
- const new_descs = [...prefixes].map(prefix => {
80
- const suffixes = [...descriptions]
81
- .map(desc => {
82
- const pref = desc.split('-> ');
83
- return pref[1] && pref[0] === prefix ? pref[1] : '';
84
- })
85
- .filter(f => !!f);
86
- return suffixes.length
87
- ? prefix + '-> ' + suffixes.join(',')
88
- : [...descriptions].join(',');
89
- });
90
- descriptions = new Set(new_descs);
91
- }
92
- if (soTerms.size) {
93
- return [[...soTerms].join(','), [...descriptions].join(',')];
94
- }
95
- return [undefined, undefined];
96
- }
97
- _getSOAndDescFromAltDefs(ref, alt) {
98
- if (typeof alt === 'string' && !alt.startsWith('<')) {
99
- return [undefined, undefined];
100
- }
101
- // look for a definition with an SO type for this
102
- let soTerm = VCFFeature._altTypeToSO[alt];
103
- // if no SO term but ALT is in metadata, assume sequence_variant
104
- if (!soTerm && this.parser.getMetadata('ALT', alt)) {
105
- soTerm = 'sequence_variant';
106
- }
107
- if (soTerm) {
108
- return [soTerm, alt];
109
- }
110
- // try to look for a definition for a parent term if we can
111
- const modAlt = alt.split(':');
112
- if (modAlt.length > 1) {
113
- return this._getSOAndDescFromAltDefs(ref, `<${modAlt.slice(0, modAlt.length - 1).join(':')}>`);
114
- }
115
- // no parent
116
- return [undefined, undefined];
117
- }
118
- // note: term SNV is used instead of SNP because SO definition of SNP says
119
- // abundance must be at least 1% in population, and can't be sure we meet
120
- // that
121
- _getSOAndDescByExamination(ref, alt) {
122
- const bnd = (0, vcf_1.parseBreakend)(alt);
123
- if (bnd) {
124
- return ['breakend', alt];
125
- }
126
- else if (ref.length === 1 && alt.length === 1) {
127
- return ['SNV', this._makeDescriptionString('SNV', ref, alt)];
128
- }
129
- else if (alt === '<INS>') {
130
- return ['insertion', alt];
131
- }
132
- else if (alt === '<DEL>') {
133
- return ['deletion', alt];
134
- }
135
- else if (alt === '<INV>') {
136
- return ['deletion', alt];
137
- }
138
- else if (alt === '<TRA>') {
139
- return ['translocation', alt];
140
- }
141
- else if (alt.includes('<')) {
142
- return ['sv', alt];
143
- }
144
- else if (ref.length === alt.length) {
145
- if (ref.split('').reverse().join('') === alt) {
146
- return ['inversion', this._makeDescriptionString('inversion', ref, alt)];
147
- }
148
- return [
149
- 'substitution',
150
- this._makeDescriptionString('substitution', ref, alt),
151
- ];
152
- }
153
- else if (ref.length <= alt.length) {
154
- return ['insertion', this._makeDescriptionString('insertion', ref, alt)];
155
- }
156
- else if (ref.length > alt.length) {
157
- return ['deletion', this._makeDescriptionString('deletion', ref, alt)];
158
- }
159
- return ['indel', this._makeDescriptionString('indel', ref, alt)];
160
- }
161
- _makeDescriptionString(soTerm, ref, alt) {
162
- return `${soTerm} ${ref} -> ${alt}`;
163
- }
164
- // eslint-disable-next-line @typescript-eslint/no-explicit-any
165
- toJSON() {
166
- return {
167
- uniqueId: this._id,
168
- ...this.variant,
169
- ...this.data,
170
- samples: this.variant.SAMPLES,
171
- };
172
- }
173
- }
174
- exports.default = VCFFeature;
175
- VCFFeature._altTypeToSO = {
176
- DEL: 'deletion',
177
- INS: 'insertion',
178
- DUP: 'duplication',
179
- INV: 'inversion',
180
- INVDUP: 'inverted duplication',
181
- CNV: 'copy_number_variation',
182
- TRA: 'translocation',
183
- 'DUP:TANDEM': 'tandem_duplication',
184
- NON_REF: 'sequence_variant',
185
- '*': 'sequence_variant',
186
- };
187
- //# sourceMappingURL=VcfFeature.js.map
@@ -1 +0,0 @@
1
- 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@@ -1,184 +0,0 @@
1
- import { parseBreakend } from '@gmod/vcf';
2
- export default class VCFFeature {
3
- // eslint-disable-next-line @typescript-eslint/no-explicit-any
4
- constructor(args) {
5
- this.variant = args.variant;
6
- this.parser = args.parser;
7
- this.data = this.dataFromVariant(this.variant);
8
- this._id = args.id;
9
- }
10
- // eslint-disable-next-line @typescript-eslint/no-explicit-any
11
- get(field) {
12
- return field === 'samples'
13
- ? this.variant.SAMPLES
14
- : this.data[field] || this.variant[field];
15
- }
16
- set() { }
17
- parent() {
18
- return undefined;
19
- }
20
- children() {
21
- return undefined;
22
- }
23
- tags() {
24
- const t = [
25
- ...Object.keys(this.data),
26
- ...Object.keys(this.variant),
27
- 'samples',
28
- ];
29
- return t;
30
- }
31
- id() {
32
- return this._id;
33
- }
34
- dataFromVariant(variant) {
35
- const { REF, ALT, POS, CHROM, INFO, ID } = variant;
36
- const start = POS - 1;
37
- const [SO_term, description] = this._getSOTermAndDescription(REF, ALT);
38
- const isTRA = ALT === null || ALT === void 0 ? void 0 : ALT.some(f => f === '<TRA>');
39
- const isSymbolic = ALT === null || ALT === void 0 ? void 0 : ALT.some(f => f.indexOf('<') !== -1);
40
- return {
41
- refName: CHROM,
42
- start,
43
- end: isSymbolic && INFO.END && !isTRA ? +INFO.END[0] : start + REF.length,
44
- description,
45
- type: SO_term,
46
- name: ID === null || ID === void 0 ? void 0 : ID.join(','),
47
- aliases: ID && ID.length > 1 ? variant.ID.slice(1) : undefined,
48
- };
49
- }
50
- /**
51
- * Get a sequence ontology (SO) term that describes the variant type
52
- */
53
- _getSOTermAndDescription(ref, alt) {
54
- // it's just a remark if there are no alternate alleles
55
- if (!alt || alt.length === 0) {
56
- return ['remark', 'no alternative alleles'];
57
- }
58
- const soTerms = new Set();
59
- let descriptions = new Set();
60
- alt.forEach(a => {
61
- let [soTerm, description] = this._getSOAndDescFromAltDefs(ref, a);
62
- if (!soTerm) {
63
- ;
64
- [soTerm, description] = this._getSOAndDescByExamination(ref, a);
65
- }
66
- if (soTerm && description) {
67
- soTerms.add(soTerm);
68
- descriptions.add(description);
69
- }
70
- });
71
- // Combine descriptions like ["SNV G -> A", "SNV G -> T"] to ["SNV G -> A,T"]
72
- if (descriptions.size > 1) {
73
- const prefixes = new Set([...descriptions].map(desc => {
74
- const prefix = desc.split('->');
75
- return prefix[1] ? prefix[0] : desc;
76
- }));
77
- const new_descs = [...prefixes].map(prefix => {
78
- const suffixes = [...descriptions]
79
- .map(desc => {
80
- const pref = desc.split('-> ');
81
- return pref[1] && pref[0] === prefix ? pref[1] : '';
82
- })
83
- .filter(f => !!f);
84
- return suffixes.length
85
- ? prefix + '-> ' + suffixes.join(',')
86
- : [...descriptions].join(',');
87
- });
88
- descriptions = new Set(new_descs);
89
- }
90
- if (soTerms.size) {
91
- return [[...soTerms].join(','), [...descriptions].join(',')];
92
- }
93
- return [undefined, undefined];
94
- }
95
- _getSOAndDescFromAltDefs(ref, alt) {
96
- if (typeof alt === 'string' && !alt.startsWith('<')) {
97
- return [undefined, undefined];
98
- }
99
- // look for a definition with an SO type for this
100
- let soTerm = VCFFeature._altTypeToSO[alt];
101
- // if no SO term but ALT is in metadata, assume sequence_variant
102
- if (!soTerm && this.parser.getMetadata('ALT', alt)) {
103
- soTerm = 'sequence_variant';
104
- }
105
- if (soTerm) {
106
- return [soTerm, alt];
107
- }
108
- // try to look for a definition for a parent term if we can
109
- const modAlt = alt.split(':');
110
- if (modAlt.length > 1) {
111
- return this._getSOAndDescFromAltDefs(ref, `<${modAlt.slice(0, modAlt.length - 1).join(':')}>`);
112
- }
113
- // no parent
114
- return [undefined, undefined];
115
- }
116
- // note: term SNV is used instead of SNP because SO definition of SNP says
117
- // abundance must be at least 1% in population, and can't be sure we meet
118
- // that
119
- _getSOAndDescByExamination(ref, alt) {
120
- const bnd = parseBreakend(alt);
121
- if (bnd) {
122
- return ['breakend', alt];
123
- }
124
- else if (ref.length === 1 && alt.length === 1) {
125
- return ['SNV', this._makeDescriptionString('SNV', ref, alt)];
126
- }
127
- else if (alt === '<INS>') {
128
- return ['insertion', alt];
129
- }
130
- else if (alt === '<DEL>') {
131
- return ['deletion', alt];
132
- }
133
- else if (alt === '<INV>') {
134
- return ['deletion', alt];
135
- }
136
- else if (alt === '<TRA>') {
137
- return ['translocation', alt];
138
- }
139
- else if (alt.includes('<')) {
140
- return ['sv', alt];
141
- }
142
- else if (ref.length === alt.length) {
143
- if (ref.split('').reverse().join('') === alt) {
144
- return ['inversion', this._makeDescriptionString('inversion', ref, alt)];
145
- }
146
- return [
147
- 'substitution',
148
- this._makeDescriptionString('substitution', ref, alt),
149
- ];
150
- }
151
- else if (ref.length <= alt.length) {
152
- return ['insertion', this._makeDescriptionString('insertion', ref, alt)];
153
- }
154
- else if (ref.length > alt.length) {
155
- return ['deletion', this._makeDescriptionString('deletion', ref, alt)];
156
- }
157
- return ['indel', this._makeDescriptionString('indel', ref, alt)];
158
- }
159
- _makeDescriptionString(soTerm, ref, alt) {
160
- return `${soTerm} ${ref} -> ${alt}`;
161
- }
162
- // eslint-disable-next-line @typescript-eslint/no-explicit-any
163
- toJSON() {
164
- return {
165
- uniqueId: this._id,
166
- ...this.variant,
167
- ...this.data,
168
- samples: this.variant.SAMPLES,
169
- };
170
- }
171
- }
172
- VCFFeature._altTypeToSO = {
173
- DEL: 'deletion',
174
- INS: 'insertion',
175
- DUP: 'duplication',
176
- INV: 'inversion',
177
- INVDUP: 'inverted duplication',
178
- CNV: 'copy_number_variation',
179
- TRA: 'translocation',
180
- 'DUP:TANDEM': 'tandem_duplication',
181
- NON_REF: 'sequence_variant',
182
- '*': 'sequence_variant',
183
- };
184
- //# sourceMappingURL=VcfFeature.js.map
@@ -1 +0,0 @@
1
- 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