@jbrowse/plugin-variants 2.3.0 → 2.3.2
This diff represents the content of publicly available package versions that have been released to one of the supported registries. The information contained in this diff is provided for informational purposes only and reflects changes between package versions as they appear in their respective public registries.
- package/dist/VcfAdapter/VcfAdapter.d.ts +1 -2
- package/dist/VcfAdapter/VcfAdapter.js +2 -2
- package/dist/VcfAdapter/VcfAdapter.js.map +1 -1
- package/dist/{VcfTabixAdapter/VcfFeature.d.ts → VcfFeature/index.d.ts} +3 -15
- package/dist/VcfFeature/index.js +59 -0
- package/dist/VcfFeature/index.js.map +1 -0
- package/dist/VcfFeature/util.d.ts +7 -0
- package/dist/VcfFeature/util.js +129 -0
- package/dist/VcfFeature/util.js.map +1 -0
- package/dist/VcfTabixAdapter/VcfTabixAdapter.js +1 -1
- package/dist/VcfTabixAdapter/VcfTabixAdapter.js.map +1 -1
- package/dist/index.d.ts +1 -1
- package/dist/index.js +1 -1
- package/dist/index.js.map +1 -1
- package/esm/VcfAdapter/VcfAdapter.d.ts +1 -2
- package/esm/VcfAdapter/VcfAdapter.js +2 -2
- package/esm/VcfAdapter/VcfAdapter.js.map +1 -1
- package/esm/{VcfTabixAdapter/VcfFeature.d.ts → VcfFeature/index.d.ts} +3 -15
- package/esm/VcfFeature/index.js +56 -0
- package/esm/VcfFeature/index.js.map +1 -0
- package/esm/VcfFeature/util.d.ts +7 -0
- package/esm/VcfFeature/util.js +123 -0
- package/esm/VcfFeature/util.js.map +1 -0
- package/esm/VcfTabixAdapter/VcfTabixAdapter.js +1 -1
- package/esm/VcfTabixAdapter/VcfTabixAdapter.js.map +1 -1
- package/esm/index.d.ts +1 -1
- package/esm/index.js +1 -1
- package/esm/index.js.map +1 -1
- package/package.json +2 -2
- package/src/VcfAdapter/VcfAdapter.test.ts +0 -2
- package/src/VcfAdapter/VcfAdapter.ts +3 -4
- package/src/VcfFeature/index.test.ts +132 -0
- package/src/VcfFeature/index.ts +104 -0
- package/src/VcfFeature/util.ts +140 -0
- package/src/VcfTabixAdapter/VcfTabixAdapter.ts +1 -1
- package/src/index.ts +1 -1
- package/dist/VcfTabixAdapter/VcfFeature.js +0 -187
- package/dist/VcfTabixAdapter/VcfFeature.js.map +0 -1
- package/esm/VcfTabixAdapter/VcfFeature.js +0 -184
- package/esm/VcfTabixAdapter/VcfFeature.js.map +0 -1
- package/src/VcfTabixAdapter/VcfFeature.test.ts +0 -118
- package/src/VcfTabixAdapter/VcfFeature.ts +0 -250
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-
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import { parseBreakend } from '@gmod/vcf';
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export default class VCFFeature {
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// eslint-disable-next-line @typescript-eslint/no-explicit-any
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constructor(args) {
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this.variant = args.variant;
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this.parser = args.parser;
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this.data = this.dataFromVariant(this.variant);
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this._id = args.id;
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}
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// eslint-disable-next-line @typescript-eslint/no-explicit-any
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get(field) {
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return field === 'samples'
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? this.variant.SAMPLES
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: this.data[field] || this.variant[field];
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}
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set() { }
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parent() {
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return undefined;
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}
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children() {
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return undefined;
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}
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tags() {
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const t = [
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...Object.keys(this.data),
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...Object.keys(this.variant),
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'samples',
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];
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return t;
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}
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id() {
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return this._id;
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}
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dataFromVariant(variant) {
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const { REF, ALT, POS, CHROM, INFO, ID } = variant;
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const start = POS - 1;
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const [SO_term, description] = this._getSOTermAndDescription(REF, ALT);
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const isTRA = ALT === null || ALT === void 0 ? void 0 : ALT.some(f => f === '<TRA>');
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const isSymbolic = ALT === null || ALT === void 0 ? void 0 : ALT.some(f => f.indexOf('<') !== -1);
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return {
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refName: CHROM,
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start,
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end: isSymbolic && INFO.END && !isTRA ? +INFO.END[0] : start + REF.length,
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description,
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type: SO_term,
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name: ID === null || ID === void 0 ? void 0 : ID.join(','),
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aliases: ID && ID.length > 1 ? variant.ID.slice(1) : undefined,
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};
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}
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/**
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* Get a sequence ontology (SO) term that describes the variant type
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*/
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_getSOTermAndDescription(ref, alt) {
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// it's just a remark if there are no alternate alleles
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if (!alt || alt.length === 0) {
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return ['remark', 'no alternative alleles'];
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}
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const soTerms = new Set();
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let descriptions = new Set();
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alt.forEach(a => {
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let [soTerm, description] = this._getSOAndDescFromAltDefs(ref, a);
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if (!soTerm) {
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;
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[soTerm, description] = this._getSOAndDescByExamination(ref, a);
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}
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if (soTerm && description) {
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soTerms.add(soTerm);
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descriptions.add(description);
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}
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});
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// Combine descriptions like ["SNV G -> A", "SNV G -> T"] to ["SNV G -> A,T"]
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if (descriptions.size > 1) {
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const prefixes = new Set([...descriptions].map(desc => {
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const prefix = desc.split('->');
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return prefix[1] ? prefix[0] : desc;
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}));
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const new_descs = [...prefixes].map(prefix => {
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const suffixes = [...descriptions]
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.map(desc => {
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const pref = desc.split('-> ');
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return pref[1] && pref[0] === prefix ? pref[1] : '';
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})
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.filter(f => !!f);
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return suffixes.length
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? prefix + '-> ' + suffixes.join(',')
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: [...descriptions].join(',');
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});
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descriptions = new Set(new_descs);
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}
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if (soTerms.size) {
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return [[...soTerms].join(','), [...descriptions].join(',')];
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}
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return [undefined, undefined];
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}
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_getSOAndDescFromAltDefs(ref, alt) {
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if (typeof alt === 'string' && !alt.startsWith('<')) {
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return [undefined, undefined];
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}
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// look for a definition with an SO type for this
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let soTerm = VCFFeature._altTypeToSO[alt];
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// if no SO term but ALT is in metadata, assume sequence_variant
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if (!soTerm && this.parser.getMetadata('ALT', alt)) {
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soTerm = 'sequence_variant';
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}
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if (soTerm) {
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return [soTerm, alt];
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}
|
|
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
|
-
{"version":3,"file":"VcfFeature.js","sourceRoot":"","sources":["../../src/VcfTabixAdapter/VcfFeature.ts"],"names":[],"mappings":"AACA,OAAO,EAAE,aAAa,EAAE,MAAM,WAAW,CAAA;AAyBzC,MAAM,CAAC,OAAO,OAAO,UAAU;IAW7B,8DAA8D;IAC9D,YAAY,IAA+C;QACzD,IAAI,CAAC,OAAO,GAAG,IAAI,CAAC,OAAO,CAAA;QAC3B,IAAI,CAAC,MAAM,GAAG,IAAI,CAAC,MAAM,CAAA;QACzB,IAAI,CAAC,IAAI,GAAG,IAAI,CAAC,eAAe,CAAC,IAAI,CAAC,OAAO,CAAC,CAAA;QAC9C,IAAI,CAAC,GAAG,GAAG,IAAI,CAAC,EAAE,CAAA;IACpB,CAAC;IAED,8DAA8D;IAC9D,GAAG,CAAC,KAAa;QACf,OAAO,KAAK,KAAK,SAAS;YACxB,CAAC,CAAC,IAAI,CAAC,OAAO,CAAC,OAAO;YACtB,CAAC,CAAC,IAAI,CAAC,IAAI,CAAC,KAAK,CAAC,IAAI,IAAI,CAAC,OAAO,CAAC,KAAK,CAAC,CAAA;IAC7C,CAAC;IAED,GAAG,KAAU,CAAC;IAEd,MAAM;QACJ,OAAO,SAAS,CAAA;IAClB,CAAC;IAED,QAAQ;QACN,OAAO,SAAS,CAAA;IAClB,CAAC;IAED,IAAI;QACF,MAAM,CAAC,GAAG;YACR,GAAG,MAAM,CAAC,IAAI,CAAC,IAAI,CAAC,IAAI,CAAC;YACzB,GAAG,MAAM,CAAC,IAAI,CAAC,IAAI,CAAC,OAAO,CAAC;YAC5B,SAAS;SACV,CAAA;QACD,OAAO,CAAC,CAAA;IACV,CAAC;IAED,EAAE;QACA,OAAO,IAAI,CAAC,GAAG,CAAA;IACjB,CAAC;IAED,eAAe,CAAC,OAOf;QACC,MAAM,EAAE,GAAG,EAAE,GAAG,EAAE,GAAG,EAAE,KAAK,EAAE,IAAI,EAAE,EAAE,EAAE,GAAG,OAAO,CAAA;QAClD,MAAM,KAAK,GAAG,GAAG,GAAG,CAAC,CAAA;QACrB,MAAM,CAAC,OAAO,EAAE,WAAW,CAAC,GAAG,IAAI,CAAC,wBAAwB,CAAC,GAAG,EAAE,GAAG,CAAC,CAAA;QACtE,MAAM,KAAK,GAAG,GAAG,aAAH,GAAG,uBAAH,GAAG,CAAE,IAAI,CAAC,CAAC,CAAC,EAAE,CAAC,CAAC,KAAK,OAAO,CAAC,CAAA;QAC3C,MAAM,UAAU,GAAG,GAAG,aAAH,GAAG,uBAAH,GAAG,CAAE,IAAI,CAAC,CAAC,CAAC,EAAE,CAAC,CAAC,CAAC,OAAO,CAAC,GAAG,CAAC,KAAK,CAAC,CAAC,CAAC,CAAA;QAExD,OAAO;YACL,OAAO,EAAE,KAAK;YACd,KAAK;YACL,GAAG,EAAE,UAAU,IAAI,IAAI,CAAC,GAAG,IAAI,CAAC,KAAK,CAAC,CAAC,CAAC,CAAC,IAAI,CAAC,GAAG,CAAC,CAAC,CAAC,CAAC,CAAC,CAAC,KAAK,GAAG,GAAG,CAAC,MAAM;YACzE,WAAW;YACX,IAAI,EAAE,OAAO;YACb,IAAI,EAAE,EAAE,aAAF,EAAE,uBAAF,EAAE,CAAE,IAAI,CAAC,GAAG,CAAC;YACnB,OAAO,EAAE,EAAE,IAAI,EAAE,CAAC,MAAM,GAAG,CAAC,CAAC,CAAC,CAAC,OAAO,CAAC,EAAE,CAAC,KAAK,CAAC,CAAC,CAAC,CAAC,CAAC,CAAC,SAAS;SAC/D,CAAA;IACH,CAAC;IAED;;OAEG;IACH,wBAAwB,CACtB,GAAW,EACX,GAAa;QAEb,uDAAuD;QACvD,IAAI,CAAC,GAAG,IAAI,GAAG,CAAC,MAAM,KAAK,CAAC,EAAE;YAC5B,OAAO,CAAC,QAAQ,EAAE,wBAAwB,CAAC,CAAA;SAC5C;QAED,MAAM,OAAO,GAAG,IAAI,GAAG,EAAU,CAAA;QACjC,IAAI,YAAY,GAAG,IAAI,GAAG,EAAU,CAAA;QACpC,GAAG,CAAC,OAAO,CAAC,CAAC,CAAC,EAAE;YACd,IAAI,CAAC,MAAM,EAAE,WAAW,CAAC,GAAG,IAAI,CAAC,wBAAwB,CAAC,GAAG,EAAE,CAAC,CAAC,CAAA;YAEjE,IAAI,CAAC,MAAM,EAAE;gBACX,CAAC;gBAAA,CAAC,MAAM,EAAE,WAAW,CAAC,GAAG,IAAI,CAAC,0BAA0B,CAAC,GAAG,EAAE,CAAC,CAAC,CAAA;aACjE;YACD,IAAI,MAAM,IAAI,WAAW,EAAE;gBACzB,OAAO,CAAC,GAAG,CAAC,MAAM,CAAC,CAAA;gBACnB,YAAY,CAAC,GAAG,CAAC,WAAW,CAAC,CAAA;aAC9B;QACH,CAAC,CAAC,CAAA;QAEF,6EAA6E;QAC7E,IAAI,YAAY,CAAC,IAAI,GAAG,CAAC,EAAE;YACzB,MAAM,QAAQ,GAAG,IAAI,GAAG,CACtB,CAAC,GAAG,YAAY,CAAC,CAAC,GAAG,CAAC,IAAI,CAAC,EAAE;gBAC3B,MAAM,MAAM,GAAG,IAAI,CAAC,KAAK,CAAC,IAAI,CAAC,CAAA;gBAC/B,OAAO,MAAM,CAAC,CAAC,CAAC,CAAC,CAAC,CAAC,MAAM,CAAC,CAAC,CAAC,CAAC,CAAC,CAAC,IAAI,CAAA;YACrC,CAAC,CAAC,CACH,CAAA;YAED,MAAM,SAAS,GAAG,CAAC,GAAG,QAAQ,CAAC,CAAC,GAAG,CAAC,MAAM,CAAC,EAAE;gBAC3C,MAAM,QAAQ,GAAG,CAAC,GAAG,YAAY,CAAC;qBAC/B,GAAG,CAAC,IAAI,CAAC,EAAE;oBACV,MAAM,IAAI,GAAG,IAAI,CAAC,KAAK,CAAC,KAAK,CAAC,CAAA;oBAC9B,OAAO,IAAI,CAAC,CAAC,CAAC,IAAI,IAAI,CAAC,CAAC,CAAC,KAAK,MAAM,CAAC,CAAC,CAAC,IAAI,CAAC,CAAC,CAAC,CAAC,CAAC,CAAC,EAAE,CAAA;gBACrD,CAAC,CAAC;qBACD,MAAM,CAAC,CAAC,CAAC,EAAE,CAAC,CAAC,CAAC,CAAC,CAAC,CAAA;gBAEnB,OAAO,QAAQ,CAAC,MAAM;oBACpB,CAAC,CAAC,MAAM,GAAG,KAAK,GAAG,QAAQ,CAAC,IAAI,CAAC,GAAG,CAAC;oBACrC,CAAC,CAAC,CAAC,GAAG,YAAY,CAAC,CAAC,IAAI,CAAC,GAAG,CAAC,CAAA;YACjC,CAAC,CAAC,CAAA;YAEF,YAAY,GAAG,IAAI,GAAG,CAAC,SAAS,CAAC,CAAA;SAClC;QACD,IAAI,OAAO,CAAC,IAAI,EAAE;YAChB,OAAO,CAAC,CAAC,GAAG,OAAO,CAAC,CAAC,IAAI,CAAC,GAAG,CAAC,EAAE,CAAC,GAAG,YAAY,CAAC,CAAC,IAAI,CAAC,GAAG,CAAC,CAAC,CAAA;SAC7D;QACD,OAAO,CAAC,SAAS,EAAE,SAAS,CAAC,CAAA;IAC/B,CAAC;IAeD,wBAAwB,CACtB,GAAW,EACX,GAAW;QAEX,IAAI,OAAO,GAAG,KAAK,QAAQ,IAAI,CAAC,GAAG,CAAC,UAAU,CAAC,GAAG,CAAC,EAAE;YACnD,OAAO,CAAC,SAAS,EAAE,SAAS,CAAC,CAAA;SAC9B;QAED,iDAAiD;QACjD,IAAI,MAAM,GAAG,UAAU,CAAC,YAAY,CAAC,GAAG,CAAC,CAAA;QACzC,gEAAgE;QAChE,IAAI,CAAC,MAAM,IAAI,IAAI,CAAC,MAAM,CAAC,WAAW,CAAC,KAAK,EAAE,GAAG,CAAC,EAAE;YAClD,MAAM,GAAG,kBAAkB,CAAA;SAC5B;QACD,IAAI,MAAM,EAAE;YACV,OAAO,CAAC,MAAM,EAAE,GAAG,CAAC,CAAA;SACrB;QAED,2DAA2D;QAC3D,MAAM,MAAM,GAAG,GAAG,CAAC,KAAK,CAAC,GAAG,CAAC,CAAA;QAC7B,IAAI,MAAM,CAAC,MAAM,GAAG,CAAC,EAAE;YACrB,OAAO,IAAI,CAAC,wBAAwB,CAClC,GAAG,EACH,IAAI,MAAM,CAAC,KAAK,CAAC,CAAC,EAAE,MAAM,CAAC,MAAM,GAAG,CAAC,CAAC,CAAC,IAAI,CAAC,GAAG,CAAC,GAAG,CACpD,CAAA;SACF;QAED,YAAY;QACZ,OAAO,CAAC,SAAS,EAAE,SAAS,CAAC,CAAA;IAC/B,CAAC;IAED,0EAA0E;IAC1E,yEAAyE;IACzE,OAAO;IACP,0BAA0B,CAAC,GAAW,EAAE,GAAW;QACjD,MAAM,GAAG,GAAG,aAAa,CAAC,GAAG,CAAC,CAAA;QAC9B,IAAI,GAAG,EAAE;YACP,OAAO,CAAC,UAAU,EAAE,GAAG,CAAC,CAAA;SACzB;aAAM,IAAI,GAAG,CAAC,MAAM,KAAK,CAAC,IAAI,GAAG,CAAC,MAAM,KAAK,CAAC,EAAE;YAC/C,OAAO,CAAC,KAAK,EAAE,IAAI,CAAC,sBAAsB,CAAC,KAAK,EAAE,GAAG,EAAE,GAAG,CAAC,CAAC,CAAA;SAC7D;aAAM,IAAI,GAAG,KAAK,OAAO,EAAE;YAC1B,OAAO,CAAC,WAAW,EAAE,GAAG,CAAC,CAAA;SAC1B;aAAM,IAAI,GAAG,KAAK,OAAO,EAAE;YAC1B,OAAO,CAAC,UAAU,EAAE,GAAG,CAAC,CAAA;SACzB;aAAM,IAAI,GAAG,KAAK,OAAO,EAAE;YAC1B,OAAO,CAAC,UAAU,EAAE,GAAG,CAAC,CAAA;SACzB;aAAM,IAAI,GAAG,KAAK,OAAO,EAAE;YAC1B,OAAO,CAAC,eAAe,EAAE,GAAG,CAAC,CAAA;SAC9B;aAAM,IAAI,GAAG,CAAC,QAAQ,CAAC,GAAG,CAAC,EAAE;YAC5B,OAAO,CAAC,IAAI,EAAE,GAAG,CAAC,CAAA;SACnB;aAAM,IAAI,GAAG,CAAC,MAAM,KAAK,GAAG,CAAC,MAAM,EAAE;YACpC,IAAI,GAAG,CAAC,KAAK,CAAC,EAAE,CAAC,CAAC,OAAO,EAAE,CAAC,IAAI,CAAC,EAAE,CAAC,KAAK,GAAG,EAAE;gBAC5C,OAAO,CAAC,WAAW,EAAE,IAAI,CAAC,sBAAsB,CAAC,WAAW,EAAE,GAAG,EAAE,GAAG,CAAC,CAAC,CAAA;aACzE;YACD,OAAO;gBACL,cAAc;gBACd,IAAI,CAAC,sBAAsB,CAAC,cAAc,EAAE,GAAG,EAAE,GAAG,CAAC;aACtD,CAAA;SACF;aAAM,IAAI,GAAG,CAAC,MAAM,IAAI,GAAG,CAAC,MAAM,EAAE;YACnC,OAAO,CAAC,WAAW,EAAE,IAAI,CAAC,sBAAsB,CAAC,WAAW,EAAE,GAAG,EAAE,GAAG,CAAC,CAAC,CAAA;SACzE;aAAM,IAAI,GAAG,CAAC,MAAM,GAAG,GAAG,CAAC,MAAM,EAAE;YAClC,OAAO,CAAC,UAAU,EAAE,IAAI,CAAC,sBAAsB,CAAC,UAAU,EAAE,GAAG,EAAE,GAAG,CAAC,CAAC,CAAA;SACvE;QAED,OAAO,CAAC,OAAO,EAAE,IAAI,CAAC,sBAAsB,CAAC,OAAO,EAAE,GAAG,EAAE,GAAG,CAAC,CAAC,CAAA;IAClE,CAAC;IAED,sBAAsB,CAAC,MAAc,EAAE,GAAW,EAAE,GAAW;QAC7D,OAAO,GAAG,MAAM,IAAI,GAAG,OAAO,GAAG,EAAE,CAAA;IACrC,CAAC;IAED,8DAA8D;IAC9D,MAAM;QACJ,OAAO;YACL,QAAQ,EAAE,IAAI,CAAC,GAAG;YAClB,GAAG,IAAI,CAAC,OAAO;YACf,GAAG,IAAI,CAAC,IAAI;YACZ,OAAO,EAAE,IAAI,CAAC,OAAO,CAAC,OAAO;SAC9B,CAAA;IACH,CAAC;;AA5FM,uBAAY,GAA0C;IAC3D,GAAG,EAAE,UAAU;IACf,GAAG,EAAE,WAAW;IAChB,GAAG,EAAE,aAAa;IAClB,GAAG,EAAE,WAAW;IAChB,MAAM,EAAE,sBAAsB;IAC9B,GAAG,EAAE,uBAAuB;IAC5B,GAAG,EAAE,eAAe;IACpB,YAAY,EAAE,oBAAoB;IAClC,OAAO,EAAE,kBAAkB;IAC3B,GAAG,EAAE,kBAAkB;CACxB,CAAA"}
|
|
@@ -1,118 +0,0 @@
|
|
|
1
|
-
import VcfParser from '@gmod/vcf'
|
|
2
|
-
import VcfFeature from './VcfFeature'
|
|
3
|
-
|
|
4
|
-
test('test usage of the VcfFeature', () => {
|
|
5
|
-
const parser = new VcfParser({
|
|
6
|
-
header: `#CHROM\tPOS\tID\tREF\tALT\tQUAL\tFILTER\tINFO\tFORMAT\tBAMs/caudaus.sorted.sam`,
|
|
7
|
-
})
|
|
8
|
-
const line = `lcl|Scaffald_1\t80465\trs118266897\tR\tA\t29\tPASS\tNS=3;0,14;AF=0.5;DB;112;PG2.1`
|
|
9
|
-
|
|
10
|
-
const variant = parser.parseLine(line)
|
|
11
|
-
|
|
12
|
-
const f = new VcfFeature({
|
|
13
|
-
parser,
|
|
14
|
-
variant,
|
|
15
|
-
id: 'myuniqueid',
|
|
16
|
-
})
|
|
17
|
-
expect(f.id()).toEqual('myuniqueid')
|
|
18
|
-
expect(f.get('name')).toEqual('rs118266897')
|
|
19
|
-
})
|
|
20
|
-
|
|
21
|
-
test('try INS feature with END less than start', () => {
|
|
22
|
-
const parser = new VcfParser({
|
|
23
|
-
header: `#CHROM\tPOS\tID\tREF\tALT\tQUAL\tFILTER\tINFO\tFORMAT\tBAMs/caudaus.sorted.sam`,
|
|
24
|
-
})
|
|
25
|
-
const line = `chr1\t100\trs123\tR\tA\t29\tPASS\tEND=1;SVTYPE=INS`
|
|
26
|
-
|
|
27
|
-
const variant = parser.parseLine(line)
|
|
28
|
-
|
|
29
|
-
const f = new VcfFeature({
|
|
30
|
-
parser,
|
|
31
|
-
variant,
|
|
32
|
-
id: 'myuniqueid',
|
|
33
|
-
})
|
|
34
|
-
expect(f.id()).toEqual('myuniqueid')
|
|
35
|
-
expect(f.get('start')).toEqual(99)
|
|
36
|
-
expect(f.get('end')).toEqual(100)
|
|
37
|
-
})
|
|
38
|
-
|
|
39
|
-
test('try DEL feature with END info field valid', () => {
|
|
40
|
-
const parser = new VcfParser({
|
|
41
|
-
header: `#CHROM\tPOS\tID\tREF\tALT\tQUAL\tFILTER\tINFO\tFORMAT\tBAMs/caudaus.sorted.sam`,
|
|
42
|
-
})
|
|
43
|
-
const line = `chr1\t100\trs123\tR\t<DEL>\t29\tPASS\tEND=1000;SVTYPE=DEL`
|
|
44
|
-
|
|
45
|
-
const variant = parser.parseLine(line)
|
|
46
|
-
|
|
47
|
-
const f = new VcfFeature({
|
|
48
|
-
parser,
|
|
49
|
-
variant,
|
|
50
|
-
id: 'myuniqueid',
|
|
51
|
-
})
|
|
52
|
-
expect(f.id()).toEqual('myuniqueid')
|
|
53
|
-
expect(f.get('start')).toEqual(99)
|
|
54
|
-
expect(f.get('end')).toEqual(1000)
|
|
55
|
-
})
|
|
56
|
-
|
|
57
|
-
describe('test SV description', () => {
|
|
58
|
-
it('multiple SVs', () => {
|
|
59
|
-
const parser = new VcfParser({
|
|
60
|
-
header: `#CHROM\tPOS\tID\tREF\tALT\tQUAL\tFILTER\tINFO\tFORMAT\tBAMs/caudaus.sorted.sam`,
|
|
61
|
-
})
|
|
62
|
-
const line = `chr1\t100\trs123\tR\t<INVDUP>,<INV>\t29\tPASS\tEND=1000;SVTYPE=DEL`
|
|
63
|
-
|
|
64
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const variant = parser.parseLine(line)
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const f = new VcfFeature({
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parser,
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variant,
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id: 'myuniqueid',
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})
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expect(f.get('description')).toEqual('<INVDUP>,<INV>')
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})
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it('BND', () => {
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const parser = new VcfParser({
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header: `#CHROM\tPOS\tID\tREF\tALT\tQUAL\tFILTER\tINFO\tFORMAT\tBAMs/caudaus.sorted.sam`,
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})
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const line = `chr1\t100\trs123\tR\tG[ctgA:34200[\t29\tPASS\tEND=1000;SVTYPE=BND`
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const variant = parser.parseLine(line)
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const f = new VcfFeature({
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variant,
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id: 'myuniqueid',
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})
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expect(f.get('description')).toEqual('G[ctgA:34200[')
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})
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|
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it('multiple BND', () => {
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const parser = new VcfParser({
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header: `#CHROM\tPOS\tID\tREF\tALT\tQUAL\tFILTER\tINFO\tFORMAT\tBAMs/caudaus.sorted.sam`,
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})
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const line = `chr1\t100\trs123\tR\tG[ctgA:34200[,G[ctgA:44200[\t29\tPASS\tEND=1000;SVTYPE=BND`
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const variant = parser.parseLine(line)
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const f = new VcfFeature({
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variant,
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id: 'myuniqueid',
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})
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expect(f.get('description')).toEqual('G[ctgA:34200[,G[ctgA:44200[')
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})
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it('multiple SNV', () => {
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const parser = new VcfParser({
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header: `#CHROM\tPOS\tID\tREF\tALT\tQUAL\tFILTER\tINFO\tFORMAT\tBAMs/caudaus.sorted.sam`,
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})
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const line = `chr1\t100\trs123\tG\tA,C\t29\tPASS\tHELLO=world`
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const variant = parser.parseLine(line)
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parser,
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id: 'myuniqueid',
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})
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expect(f.get('description')).toEqual('SNV G -> A,C')
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})
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})
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|
@@ -1,250 +0,0 @@
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import { Feature } from '@jbrowse/core/util/simpleFeature'
|
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|
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import { parseBreakend } from '@gmod/vcf'
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4
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/* eslint-disable no-underscore-dangle */
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5
|
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/**
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|
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* VCF Feature creation with lazy genotype evaluation.
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|
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*/
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|
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interface Samples {
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[key: string]: {
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}
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}
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interface FeatureData {
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[key: string]: unknown
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refName: string
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start: number
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end: number
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description?: string
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type?: string
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name?: string
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aliases?: string[]
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samples?: Samples
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}
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export default class VCFFeature implements Feature {
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// eslint-disable-next-line @typescript-eslint/no-explicit-any
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private variant: any
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// eslint-disable-next-line @typescript-eslint/no-explicit-any
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private parser: any
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private data: FeatureData
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private _id: string
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// eslint-disable-next-line @typescript-eslint/no-explicit-any
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constructor(args: { variant: any; parser: any; id: string }) {
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|
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this.variant = args.variant
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|
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this.parser = args.parser
|
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|
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this.data = this.dataFromVariant(this.variant)
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|
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this._id = args.id
|
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44
|
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}
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|
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// eslint-disable-next-line @typescript-eslint/no-explicit-any
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get(field: string): any {
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|
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return field === 'samples'
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|
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? this.variant.SAMPLES
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|
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: this.data[field] || this.variant[field]
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}
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set(): void {}
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parent(): undefined {
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return undefined
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|
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}
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children(): undefined {
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return undefined
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|
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}
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|
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tags(): string[] {
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|
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const t = [
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...Object.keys(this.data),
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|
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...Object.keys(this.variant),
|
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|
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'samples',
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|
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]
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|
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return t
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|
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}
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|
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|
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|
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id(): string {
|
|
73
|
-
return this._id
|
|
74
|
-
}
|
|
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|
-
|
|
76
|
-
dataFromVariant(variant: {
|
|
77
|
-
REF: string
|
|
78
|
-
POS: number
|
|
79
|
-
ALT: string[]
|
|
80
|
-
CHROM: string
|
|
81
|
-
INFO: any // eslint-disable-line @typescript-eslint/no-explicit-any
|
|
82
|
-
ID: string[]
|
|
83
|
-
}): FeatureData {
|
|
84
|
-
const { REF, ALT, POS, CHROM, INFO, ID } = variant
|
|
85
|
-
const start = POS - 1
|
|
86
|
-
const [SO_term, description] = this._getSOTermAndDescription(REF, ALT)
|
|
87
|
-
const isTRA = ALT?.some(f => f === '<TRA>')
|
|
88
|
-
const isSymbolic = ALT?.some(f => f.indexOf('<') !== -1)
|
|
89
|
-
|
|
90
|
-
return {
|
|
91
|
-
refName: CHROM,
|
|
92
|
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start,
|
|
93
|
-
end: isSymbolic && INFO.END && !isTRA ? +INFO.END[0] : start + REF.length,
|
|
94
|
-
description,
|
|
95
|
-
type: SO_term,
|
|
96
|
-
name: ID?.join(','),
|
|
97
|
-
aliases: ID && ID.length > 1 ? variant.ID.slice(1) : undefined,
|
|
98
|
-
}
|
|
99
|
-
}
|
|
100
|
-
|
|
101
|
-
/**
|
|
102
|
-
* Get a sequence ontology (SO) term that describes the variant type
|
|
103
|
-
*/
|
|
104
|
-
_getSOTermAndDescription(
|
|
105
|
-
ref: string,
|
|
106
|
-
alt: string[],
|
|
107
|
-
): [string, string] | [undefined, undefined] {
|
|
108
|
-
// it's just a remark if there are no alternate alleles
|
|
109
|
-
if (!alt || alt.length === 0) {
|
|
110
|
-
return ['remark', 'no alternative alleles']
|
|
111
|
-
}
|
|
112
|
-
|
|
113
|
-
const soTerms = new Set<string>()
|
|
114
|
-
let descriptions = new Set<string>()
|
|
115
|
-
alt.forEach(a => {
|
|
116
|
-
let [soTerm, description] = this._getSOAndDescFromAltDefs(ref, a)
|
|
117
|
-
|
|
118
|
-
if (!soTerm) {
|
|
119
|
-
;[soTerm, description] = this._getSOAndDescByExamination(ref, a)
|
|
120
|
-
}
|
|
121
|
-
if (soTerm && description) {
|
|
122
|
-
soTerms.add(soTerm)
|
|
123
|
-
descriptions.add(description)
|
|
124
|
-
}
|
|
125
|
-
})
|
|
126
|
-
|
|
127
|
-
// Combine descriptions like ["SNV G -> A", "SNV G -> T"] to ["SNV G -> A,T"]
|
|
128
|
-
if (descriptions.size > 1) {
|
|
129
|
-
const prefixes = new Set(
|
|
130
|
-
[...descriptions].map(desc => {
|
|
131
|
-
const prefix = desc.split('->')
|
|
132
|
-
return prefix[1] ? prefix[0] : desc
|
|
133
|
-
}),
|
|
134
|
-
)
|
|
135
|
-
|
|
136
|
-
const new_descs = [...prefixes].map(prefix => {
|
|
137
|
-
const suffixes = [...descriptions]
|
|
138
|
-
.map(desc => {
|
|
139
|
-
const pref = desc.split('-> ')
|
|
140
|
-
return pref[1] && pref[0] === prefix ? pref[1] : ''
|
|
141
|
-
})
|
|
142
|
-
.filter(f => !!f)
|
|
143
|
-
|
|
144
|
-
return suffixes.length
|
|
145
|
-
? prefix + '-> ' + suffixes.join(',')
|
|
146
|
-
: [...descriptions].join(',')
|
|
147
|
-
})
|
|
148
|
-
|
|
149
|
-
descriptions = new Set(new_descs)
|
|
150
|
-
}
|
|
151
|
-
if (soTerms.size) {
|
|
152
|
-
return [[...soTerms].join(','), [...descriptions].join(',')]
|
|
153
|
-
}
|
|
154
|
-
return [undefined, undefined]
|
|
155
|
-
}
|
|
156
|
-
|
|
157
|
-
static _altTypeToSO: { [key: string]: string | undefined } = {
|
|
158
|
-
DEL: 'deletion',
|
|
159
|
-
INS: 'insertion',
|
|
160
|
-
DUP: 'duplication',
|
|
161
|
-
INV: 'inversion',
|
|
162
|
-
INVDUP: 'inverted duplication',
|
|
163
|
-
CNV: 'copy_number_variation',
|
|
164
|
-
TRA: 'translocation',
|
|
165
|
-
'DUP:TANDEM': 'tandem_duplication',
|
|
166
|
-
NON_REF: 'sequence_variant',
|
|
167
|
-
'*': 'sequence_variant',
|
|
168
|
-
}
|
|
169
|
-
|
|
170
|
-
_getSOAndDescFromAltDefs(
|
|
171
|
-
ref: string,
|
|
172
|
-
alt: string,
|
|
173
|
-
): [string, string] | [undefined, undefined] {
|
|
174
|
-
if (typeof alt === 'string' && !alt.startsWith('<')) {
|
|
175
|
-
return [undefined, undefined]
|
|
176
|
-
}
|
|
177
|
-
|
|
178
|
-
// look for a definition with an SO type for this
|
|
179
|
-
let soTerm = VCFFeature._altTypeToSO[alt]
|
|
180
|
-
// if no SO term but ALT is in metadata, assume sequence_variant
|
|
181
|
-
if (!soTerm && this.parser.getMetadata('ALT', alt)) {
|
|
182
|
-
soTerm = 'sequence_variant'
|
|
183
|
-
}
|
|
184
|
-
if (soTerm) {
|
|
185
|
-
return [soTerm, alt]
|
|
186
|
-
}
|
|
187
|
-
|
|
188
|
-
// try to look for a definition for a parent term if we can
|
|
189
|
-
const modAlt = alt.split(':')
|
|
190
|
-
if (modAlt.length > 1) {
|
|
191
|
-
return this._getSOAndDescFromAltDefs(
|
|
192
|
-
ref,
|
|
193
|
-
`<${modAlt.slice(0, modAlt.length - 1).join(':')}>`,
|
|
194
|
-
)
|
|
195
|
-
}
|
|
196
|
-
|
|
197
|
-
// no parent
|
|
198
|
-
return [undefined, undefined]
|
|
199
|
-
}
|
|
200
|
-
|
|
201
|
-
// note: term SNV is used instead of SNP because SO definition of SNP says
|
|
202
|
-
// abundance must be at least 1% in population, and can't be sure we meet
|
|
203
|
-
// that
|
|
204
|
-
_getSOAndDescByExamination(ref: string, alt: string): [string, string] {
|
|
205
|
-
const bnd = parseBreakend(alt)
|
|
206
|
-
if (bnd) {
|
|
207
|
-
return ['breakend', alt]
|
|
208
|
-
} else if (ref.length === 1 && alt.length === 1) {
|
|
209
|
-
return ['SNV', this._makeDescriptionString('SNV', ref, alt)]
|
|
210
|
-
} else if (alt === '<INS>') {
|
|
211
|
-
return ['insertion', alt]
|
|
212
|
-
} else if (alt === '<DEL>') {
|
|
213
|
-
return ['deletion', alt]
|
|
214
|
-
} else if (alt === '<INV>') {
|
|
215
|
-
return ['deletion', alt]
|
|
216
|
-
} else if (alt === '<TRA>') {
|
|
217
|
-
return ['translocation', alt]
|
|
218
|
-
} else if (alt.includes('<')) {
|
|
219
|
-
return ['sv', alt]
|
|
220
|
-
} else if (ref.length === alt.length) {
|
|
221
|
-
if (ref.split('').reverse().join('') === alt) {
|
|
222
|
-
return ['inversion', this._makeDescriptionString('inversion', ref, alt)]
|
|
223
|
-
}
|
|
224
|
-
return [
|
|
225
|
-
'substitution',
|
|
226
|
-
this._makeDescriptionString('substitution', ref, alt),
|
|
227
|
-
]
|
|
228
|
-
} else if (ref.length <= alt.length) {
|
|
229
|
-
return ['insertion', this._makeDescriptionString('insertion', ref, alt)]
|
|
230
|
-
} else if (ref.length > alt.length) {
|
|
231
|
-
return ['deletion', this._makeDescriptionString('deletion', ref, alt)]
|
|
232
|
-
}
|
|
233
|
-
|
|
234
|
-
return ['indel', this._makeDescriptionString('indel', ref, alt)]
|
|
235
|
-
}
|
|
236
|
-
|
|
237
|
-
_makeDescriptionString(soTerm: string, ref: string, alt: string): string {
|
|
238
|
-
return `${soTerm} ${ref} -> ${alt}`
|
|
239
|
-
}
|
|
240
|
-
|
|
241
|
-
// eslint-disable-next-line @typescript-eslint/no-explicit-any
|
|
242
|
-
toJSON(): any {
|
|
243
|
-
return {
|
|
244
|
-
uniqueId: this._id,
|
|
245
|
-
...this.variant,
|
|
246
|
-
...this.data,
|
|
247
|
-
samples: this.variant.SAMPLES,
|
|
248
|
-
}
|
|
249
|
-
}
|
|
250
|
-
}
|