diff --git a/data/variants.ts b/data/variants.ts new file mode 100644 index 0000000..94f67e1 --- /dev/null +++ b/data/variants.ts @@ -0,0 +1,456 @@ +import { NOTATION_TO_TYPES } from '../src/constants'; + +const standardVariants = { + 'EGFR:e.20_21ins': { + break1Start: { + '@class': 'ExonicPosition', + pos: 20, + prefix: 'e', + }, + break1Repr: 'e.20', + break2Start: { + '@class': 'ExonicPosition', + pos: 21, + prefix: 'e', + }, + break2Repr: 'e.21', + prefix: 'e', + reference1: 'EGFR', + type: NOTATION_TO_TYPES.ins, + }, + 'KRAS:p.G12D': { + break1Start: { + '@class': 'ProteinPosition', + pos: 12, + prefix: 'p', + refAA: 'G', + }, + break1Repr: 'p.G12', + prefix: 'p', + reference1: 'KRAS', + type: NOTATION_TO_TYPES.mis, + untemplatedSeq: 'D', + }, +}; + +// Actual fusion variant with legacy notation (KBDEV-974) +const legacyNomenclatureFusionVariants = { + '(ATP1B1,NRG1):fusion(g.169080736,g.32453346)': { + reference1: 'ATP1B1', + reference2: 'NRG1', + multiFeature: true, + type: NOTATION_TO_TYPES.fusion, + break1Start: { + '@class': 'GenomicPosition', + pos: 169080736, + prefix: 'g', + }, + break1Repr: 'g.169080736', + break2Start: { + '@class': 'GenomicPosition', + pos: 32453346, + prefix: 'g', + }, + break2Repr: 'g.32453346', + noFeatures: false, + prefix: 'g', + }, + '(ENST00000357447,ENST00000371953):fusion(c.1118,c.165)': { + reference1: 'ENST00000357447', + reference2: 'ENST00000371953', + multiFeature: true, + type: NOTATION_TO_TYPES.fusion, + break1Start: { + '@class': 'CdsPosition', + pos: 1118, + prefix: 'c', + offset: 0, + }, + break1Repr: 'c.1118', + break2Start: { + '@class': 'CdsPosition', + pos: 165, + prefix: 'c', + offset: 0, + }, + break2Repr: 'c.165', + noFeatures: false, + prefix: 'c', + }, + '(COL1A1,PDGFB):fusion(r.2354,r.852)': { + reference1: 'COL1A1', + reference2: 'PDGFB', + multiFeature: true, + type: NOTATION_TO_TYPES.fusion, + break1Start: { + '@class': 'RnaPosition', + pos: 2354, + prefix: 'r', + offset: 0, + }, + break1Repr: 'r.2354', + break2Start: { + '@class': 'RnaPosition', + pos: 852, + prefix: 'r', + offset: 0, + }, + break2Repr: 'r.852', + noFeatures: false, + prefix: 'r', + }, + '(CLTC,ALK):fusion(e.30,e.20)': { + reference1: 'CLTC', + reference2: 'ALK', + multiFeature: true, + type: NOTATION_TO_TYPES.fusion, + break1Start: { + '@class': 'ExonicPosition', + pos: 30, + prefix: 'e', + }, + break1Repr: 'e.30', + break2Start: { + '@class': 'ExonicPosition', + pos: 20, + prefix: 'e', + }, + break2Repr: 'e.20', + noFeatures: false, + prefix: 'e', + }, + '(ZNF532,NUTM1):fusion(p.?4,e.2)': { + reference1: 'ZNF532', + reference2: 'NUTM1', + multiFeature: true, + type: NOTATION_TO_TYPES.fusion, + break1Start: { + '@class': 'ProteinPosition', + pos: 4, + prefix: 'p', + longRefAA: null, + refAA: null, + }, + break1Repr: 'p.?4', + break2Start: { + '@class': 'ExonicPosition', + pos: 2, + prefix: 'e', + }, + break2Repr: 'e.2', + noFeatures: false, + prefix: null, + }, + '(CDH1,LARS):fusion(i.2,e.17)': { + reference1: 'CDH1', + reference2: 'LARS', + multiFeature: true, + type: NOTATION_TO_TYPES.fusion, + break1Start: { + '@class': 'IntronicPosition', + pos: 2, + prefix: 'i', + }, + break1Repr: 'i.2', + break2Start: { + '@class': 'ExonicPosition', + pos: 17, + prefix: 'e', + }, + break2Repr: 'e.17', + noFeatures: false, + prefix: null, + }, + '(chr3,BRAF):fusion(y.p26.3,e.4)': { + reference1: 'chr3', + reference2: 'BRAF', + multiFeature: true, + type: NOTATION_TO_TYPES.fusion, + break1Start: { + arm: 'p', + majorBand: 26, + minorBand: 3, + '@class': 'CytobandPosition', + prefix: 'y', + }, + break1Repr: 'y.p26.3', + break2Start: { + '@class': 'ExonicPosition', + pos: 4, + prefix: 'e', + }, + break2Repr: 'e.4', + noFeatures: false, + prefix: null, + }, +}; + +// New fusion nomenclature (KBDEV-974) +const newNomenclatureFusionVariants = { + 'ATP1B1:g.?_169080736::NRG1:g.32453346_?': { + reference1: 'ATP1B1', + reference2: 'NRG1', + multiFeature: true, + type: NOTATION_TO_TYPES.fusion, + break1Start: { + '@class': 'GenomicPosition', + pos: null, + prefix: 'g', + }, + break1End: { + '@class': 'GenomicPosition', + pos: 169080736, + prefix: 'g', + }, + break1Repr: 'g.?_169080736', + break2End: { + '@class': 'GenomicPosition', + pos: null, + prefix: 'g', + }, + break2Start: { + '@class': 'GenomicPosition', + pos: 32453346, + prefix: 'g', + }, + break2Repr: 'g.32453346_?', + noFeatures: false, + prefix: 'g', + }, + 'ENST00000357447:c.?_1118::ENST00000371953:c.165_?': { + reference1: 'ENST00000357447', + reference2: 'ENST00000371953', + multiFeature: true, + type: 'fusion', + break1Start: { + '@class': 'CdsPosition', + pos: null, + prefix: 'c', + offset: 0, + }, + break1End: { + '@class': 'CdsPosition', + pos: 1118, + prefix: 'c', + offset: 0, + }, + break1Repr: 'c.?_1118', + break2End: { + '@class': 'CdsPosition', + pos: null, + prefix: 'c', + offset: 0, + }, + break2Start: { + '@class': 'CdsPosition', + pos: 165, + prefix: 'c', + offset: 0, + }, + break2Repr: 'c.165_?', + noFeatures: false, + prefix: 'c', + }, + 'COL1A1:r.?_2354::PDGFB:r.852_?': { + reference1: 'COL1A1', + reference2: 'PDGFB', + multiFeature: true, + type: 'fusion', + break1Start: { + '@class': 'RnaPosition', + pos: null, + prefix: 'r', + offset: 0, + }, + break1End: { + '@class': 'RnaPosition', + pos: 2354, + prefix: 'r', + offset: 0, + }, + break1Repr: 'r.?_2354', + break2End: { + '@class': 'RnaPosition', + pos: null, + prefix: 'r', + offset: 0, + }, + break2Start: { + '@class': 'RnaPosition', + pos: 852, + prefix: 'r', + offset: 0, + }, + break2Repr: 'r.852_?', + noFeatures: false, + prefix: 'r', + }, + 'CLTC:e.?_30::ALK:e.20_?': { + reference1: 'CLTC', + reference2: 'ALK', + multiFeature: true, + type: 'fusion', + break1Start: { + '@class': 'ExonicPosition', + pos: null, + prefix: 'e', + }, + break1End: { + '@class': 'ExonicPosition', + pos: 30, + prefix: 'e', + }, + break1Repr: 'e.?_30', + break2End: { + '@class': 'ExonicPosition', + pos: null, + prefix: 'e', + }, + break2Start: { + '@class': 'ExonicPosition', + pos: 20, + prefix: 'e', + }, + break2Repr: 'e.20_?', + noFeatures: false, + prefix: 'e', + }, + 'ZNF532:p.??_?4::NUTM1:e.2_?': { + reference1: 'ZNF532', + reference2: 'NUTM1', + multiFeature: true, + type: 'fusion', + break1Start: { + '@class': 'ProteinPosition', + pos: null, + prefix: 'p', + longRefAA: null, + refAA: null, + }, + break1End: { + '@class': 'ProteinPosition', + pos: 4, + prefix: 'p', + longRefAA: null, + refAA: null, + }, + break1Repr: 'p.??_?4', + break2End: { + '@class': 'ExonicPosition', + pos: null, + prefix: 'e', + }, + break2Start: { + '@class': 'ExonicPosition', + pos: 2, + prefix: 'e', + }, + break2Repr: 'e.2_?', + noFeatures: false, + prefix: null, + }, + 'CDH1:i.?_2::LARS:e.17_?': { + reference1: 'CDH1', + reference2: 'LARS', + multiFeature: true, + type: 'fusion', + break1Start: { + '@class': 'IntronicPosition', + pos: null, + prefix: 'i', + }, + break1End: { + '@class': 'IntronicPosition', + pos: 2, + prefix: 'i', + }, + break1Repr: 'i.?_2', + break2End: { + '@class': 'ExonicPosition', + pos: null, + prefix: 'e', + }, + break2Start: { + '@class': 'ExonicPosition', + pos: 17, + prefix: 'e', + }, + break2Repr: 'e.17_?', + noFeatures: false, + prefix: null, + }, + 'chr3:y.p_p26.3::BRAF:e.4_?': { + reference1: 'chr3', + reference2: 'BRAF', + multiFeature: true, + type: 'fusion', + break1Start: { + arm: 'p', + '@class': 'CytobandPosition', + prefix: 'y', + }, + break1End: { + arm: 'p', + majorBand: 26, + minorBand: 3, + '@class': 'CytobandPosition', + prefix: 'y', + }, + break1Repr: 'y.p_p26.3', + break2End: { + '@class': 'ExonicPosition', + pos: null, + prefix: 'e', + }, + break2Start: { + '@class': 'ExonicPosition', + pos: 4, + prefix: 'e', + }, + break2Repr: 'e.4_?', + noFeatures: false, + prefix: null, + }, + 'EPCAM:r.?_555::GUAUGAUUUUUUAAUAA::MSH2:r.212_?': { + reference1: 'EPCAM', + reference2: 'MSH2', + multiFeature: true, + type: 'fusion', + break1Start: { + '@class': 'RnaPosition', + pos: null, + prefix: 'r', + offset: 0, + }, + break1End: { + '@class': 'RnaPosition', + pos: 555, + prefix: 'r', + offset: 0, + }, + break1Repr: 'r.?_555', + break2End: { + '@class': 'RnaPosition', + pos: null, + prefix: 'r', + offset: 0, + }, + break2Start: { + '@class': 'RnaPosition', + pos: 212, + prefix: 'r', + offset: 0, + }, + break2Repr: 'r.212_?', + untemplatedSeq: 'GUAUGAUUUUUUAAUAA', + untemplatedSeqSize: 17, + noFeatures: false, + prefix: 'r', + }, +}; + +export default { + legacyNomenclatureFusionVariants, + newNomenclatureFusionVariants, + standardVariants, +}; diff --git a/package-lock.json b/package-lock.json index 7185fb3..c12946a 100644 --- a/package-lock.json +++ b/package-lock.json @@ -1,12 +1,12 @@ { "name": "@bcgsc-pori/graphkb-parser", - "version": "2.0.0", + "version": "2.1.0", "lockfileVersion": 2, "requires": true, "packages": { "": { "name": "@bcgsc-pori/graphkb-parser", - "version": "1.1.3", + "version": "2.1.0", "license": "GPL-3.0", "dependencies": { "json-cycle": "^1.3.0" @@ -85,9 +85,9 @@ } }, "node_modules/@babel/core/node_modules/semver": { - "version": "6.3.0", - "resolved": "https://registry.npmjs.org/semver/-/semver-6.3.0.tgz", - "integrity": "sha512-b39TBaTSfV6yBrapU89p5fKekE2m/NwnDocOVruQFS1/veMgdzuPcnOM34M6CwxW8jH/lxEa5rBoDeUwu5HHTw==", + "version": "6.3.1", + "resolved": "https://registry.npmjs.org/semver/-/semver-6.3.1.tgz", + "integrity": "sha512-BR7VvDCVHO+q2xBEWskxS6DJE1qRnb7DxzUrogb71CWoSficBxYsiAGd+Kl0mmq/MprG9yArRkyrQxTO6XjMzA==", "dev": true, "bin": { "semver": "bin/semver.js" @@ -151,9 +151,9 @@ } }, "node_modules/@babel/helper-compilation-targets/node_modules/semver": { - "version": "6.3.0", - "resolved": "https://registry.npmjs.org/semver/-/semver-6.3.0.tgz", - "integrity": "sha512-b39TBaTSfV6yBrapU89p5fKekE2m/NwnDocOVruQFS1/veMgdzuPcnOM34M6CwxW8jH/lxEa5rBoDeUwu5HHTw==", + "version": "6.3.1", + "resolved": "https://registry.npmjs.org/semver/-/semver-6.3.1.tgz", + "integrity": 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"escalade": "^3.1.1", + "picocolors": "^1.0.0" + } + }, "uri-js": { "version": "4.4.1", "resolved": "https://registry.npmjs.org/uri-js/-/uri-js-4.4.1.tgz", @@ -33003,6 +33072,16 @@ "integrity": "sha1-2pN/emLiH+wf0Y1Js1wpNQZ6bHI=", "dev": true }, + "url-parse": { + "version": "1.5.10", + "resolved": "https://registry.npmjs.org/url-parse/-/url-parse-1.5.10.tgz", + "integrity": "sha512-WypcfiRhfeUP9vvF0j6rw0J3hrWrw6iZv3+22h6iRMJ/8z1Tj6XfLP4DsUix5MhMPnXpiHDoKyoZ/bdCkwBCiQ==", + "dev": true, + "requires": { + "querystringify": "^2.1.1", + "requires-port": "^1.0.0" + } + }, "use": { "version": "3.1.1", "resolved": "https://registry.npmjs.org/use/-/use-3.1.1.tgz", @@ -33168,9 +33247,9 @@ "dev": true }, "word-wrap": { - "version": "1.2.3", - "resolved": "https://registry.npmjs.org/word-wrap/-/word-wrap-1.2.3.tgz", - "integrity": "sha512-Hz/mrNwitNRh/HUAtM/VT/5VH+ygD6DV7mYKZAtHOrbs8U7lvPS6xf7EJKMF0uW1KJCl0H701g3ZGus+muE5vQ==", + "version": "1.2.5", + "resolved": "https://registry.npmjs.org/word-wrap/-/word-wrap-1.2.5.tgz", + "integrity": "sha512-BN22B5eaMMI9UMtjrGd5g5eCYPpCPDUy0FJXbYsaT5zYxjFOckS53SQDE3pWkVoWpHXVb3BrYcEN4Twa55B5cA==", "dev": true }, "wrap-ansi": { diff --git a/package.json b/package.json index b0b712e..21c5389 100644 --- a/package.json +++ b/package.json @@ -1,6 +1,6 @@ { "name": "@bcgsc-pori/graphkb-parser", - "version": "2.0.0", + "version": "2.1.0", "description": "A package for parsing and recreating HGVS-like variant notation used in GraphKB", "main": "dist/index.js", "types": "dist/index.d.ts", diff --git a/src/error.ts b/src/error.ts index 60f2a5a..2f5a3fe 100644 --- a/src/error.ts +++ b/src/error.ts @@ -55,4 +55,11 @@ class ParsingError extends ErrorMixin {} class InputValidationError extends ErrorMixin {} -export { ParsingError, ErrorMixin, InputValidationError }; +class NotImplementedError extends ErrorMixin {} + +export { + ErrorMixin, + InputValidationError, + NotImplementedError, + ParsingError, +}; diff --git a/src/variant.ts b/src/variant.ts index 5d1b7ab..30360af 100644 --- a/src/variant.ts +++ b/src/variant.ts @@ -1,6 +1,10 @@ -import { ParsingError, InputValidationError } from './error'; +import { InputValidationError, ParsingError } from './error'; import { - createPosition, createBreakRepr, convertPositionToJson, parsePosition, AnyPosition, + AnyPosition, + convertPositionToJson, + createBreakRepr, + createPosition, + parsePosition, } from './position'; import { NOTATION_TO_TYPES, @@ -43,7 +47,7 @@ interface VariantNotation { untemplatedSeqSize?: number; type: OntologyTerm | string; refSeq?: string | null; - prefix: Prefix; + prefix: Prefix | null; multiFeature: boolean; truncation?: number | null; notationType?: string; @@ -80,7 +84,7 @@ const createVariantNotation = ({ untemplatedSeqSize?: number | null; type: string; refSeq?: string | null; - prefix: Prefix; + prefix: Prefix | null; multiFeature?: boolean; truncation?: number; notationType?: string; @@ -125,7 +129,14 @@ const createVariantNotation = ({ // cast positions const formatPosition = (input) => { if (input !== null && input !== undefined) { - return createPosition(prefix, input); + let breakPrefix; + + if (typeof input.prefix !== 'undefined') { + breakPrefix = input.prefix; + } else { + breakPrefix = prefix; + } + return createPosition(breakPrefix, input); } return input; }; @@ -203,7 +214,7 @@ const jsonifyVariant = (variant: VariantNotation): { [key: string]: string } => return json; }; -const stringifyVariant = (variant: VariantNotation): string => { +const stringifyVariant = (variant: VariantNotation, newFusion = false): string => { const { multiFeature, noFeatures, @@ -230,7 +241,22 @@ const stringifyVariant = (variant: VariantNotation): string => { if (!break2Repr) { throw new InputValidationError('Multi-feature notation requires break2Repr'); } - // multi-feature notation + // new fusion nomenclature notation + if (newFusion) { + let insertedSequence = ''; + + if (untemplatedSeq !== undefined && untemplatedSeq !== null) { + insertedSequence = `${untemplatedSeq}::`; + } + + if (noFeatures) { + return `${break1Repr}::${insertedSequence}${break2Repr}`; + } + + return `${reference1}:${break1Repr}::${insertedSequence}${reference2}:${break2Repr}`; + } + + // multi-feature notation (incl. legacy fusion notation) let result = noFeatures ? '' : `(${reference1},${reference2}):`; @@ -311,7 +337,7 @@ const parseMultiFeature = (string: string): { break2End?: AnyPosition, untemplatedSeqSize?: number | null, untemplatedSeq?: string | null, - prefix: Prefix, + prefix: Prefix | null, } => { if (string.length < 6) { throw new ParsingError(`Too short. Multi-feature notation must be a minimum of six characters: ${string}`); @@ -379,29 +405,36 @@ const parseMultiFeature = (string: string): { violatedAttr: 'punctuation', }); } - let prefix, + let break1Prefix, + break2Prefix, break1Start, break1End, break2Start, break2End; try { - prefix = getPrefix(positions[0]); + break1Prefix = getPrefix(positions[0]); positions[0] = positions[0].slice(2); if (positions[0].includes('_')) { const splitPos = positions[0].indexOf('_'); - break1Start = parsePosition(prefix, positions[0].slice(0, splitPos)); - break1End = parsePosition(prefix, positions[0].slice(splitPos + 1)); + break1Start = parsePosition(break1Prefix, positions[0].slice(0, splitPos)); + break1End = parsePosition(break1Prefix, positions[0].slice(splitPos + 1)); } else { - break1Start = parsePosition(prefix, positions[0]); + break1Start = parsePosition(break1Prefix, positions[0]); } } catch (err) { throw new ParsingError({ message: 'Error in parsing the first breakpoint position/range', input: string, parsed: { - type: variantType, break1Start, break1End, break2Start, break2End, untemplatedSeqSize, untemplatedSeq, + type: variantType, + break1Start, + break1End, + break2Start, + break2End, + untemplatedSeqSize, + untemplatedSeq, }, subParserError: err, violatedAttr: 'break1', @@ -409,32 +442,195 @@ const parseMultiFeature = (string: string): { } try { - prefix = getPrefix(positions[1]); + break2Prefix = getPrefix(positions[1]); positions[1] = positions[1].slice(2); if (positions[1].includes('_')) { const splitPos = positions[1].indexOf('_'); - break2Start = parsePosition(prefix, positions[1].slice(0, splitPos)); - break2End = parsePosition(prefix, positions[1].slice(splitPos + 1)); + break2Start = parsePosition(break2Prefix, positions[1].slice(0, splitPos)); + break2End = parsePosition(break2Prefix, positions[1].slice(splitPos + 1)); } else { - break2Start = parsePosition(prefix, positions[1]); + break2Start = parsePosition(break2Prefix, positions[1]); } } catch (err) { throw new ParsingError({ message: 'Error in parsing the second breakpoint position/range', input: string, parsed: { - type: variantType, break1Start, break1End, break2Start, break2End, untemplatedSeqSize, untemplatedSeq, + type: variantType, + break1Start, + break1End, + break2Start, + break2End, + untemplatedSeqSize, + untemplatedSeq, }, subParserError: err, violatedAttr: 'break2', }); } + + // prefix + let prefix; + + if (break1Prefix === break2Prefix) { + // Since each fusion part have it's own prefix, a prefix at the variant + // level is only given if they are the same + prefix = break1Prefix; + } + + return { + type: variantType, + break1Start, + break1End, + break2Start, + break2End, + untemplatedSeqSize, + untemplatedSeq, + prefix: prefix || null, + }; +}; + +/** + * Parse one side of a fusion variant using the new nomenclature (KBDEV-974) + * + * @param {string} string is one of the fusion part (one side) to be parsed + * @param {boolean} requireFeatures + * + * @returns {VariantNotation} the parsed content + */ +const parseFusionPart = (string, requireFeatures) => { + // Come from a multi-feature variant + const multiFeature = true; + + // Feature vs Variant strings + const stringSplit = string.split(':'); + + if (stringSplit.length > 2) { + throw new ParsingError({ + message: 'Variant notation must contain a single colon', + input: string, + violatedAttr: 'punctuation', + }); + } else if (stringSplit.length === 1) { + if (!requireFeatures) { + stringSplit.unshift(''); + } else { + throw new ParsingError({ + message: 'Feature name not specified. Feature name is required', + violatedAttr: 'reference1', + }); + } + } + const [featureString, variantString] = stringSplit; + + // References + let reference1 = ''; + + if (featureString) { + reference1 = featureString; + } + + // Prefix + const prefix = getPrefix(variantString); + + // Range of positions + const positions = variantString.slice(prefix.length + 1).split('_'); + + if (positions.length !== 2) { + throw new ParsingError({ + message: 'Fusion notation must be a range of positions', + input: string, + }); + } + + // Returns a partial variant notation for that variant's part return { - type: variantType, break1Start, break1End, break2Start, break2End, untemplatedSeqSize, untemplatedSeq, prefix, + reference1, + reference2: '', + type: NOTATION_TO_TYPES.fusion, + multiFeature, + prefix, + break1Start: parsePosition(prefix, positions[0]), + break1End: parsePosition(prefix, positions[1]), }; }; +/** + * Parse a fusion variant using the new HGVS nomenclature (KBDEV-974) + * + * @param {string} string is a fusion variant using the new nomenclature + * @param {boolean} requireFeatures, if set to false, allows string without feature + * + * @returns {VariantNotation} the parsed content + */ +const parseFusion = (string, requireFeatures = true) => { + const parts = string.split('::'); + + if (parts.length > 3) { + throw new ParsingError({ + message: 'Fusion variant using new nomenclature must contain 1 or 2 double-colon', + input: string, + violatedAttr: 'punctuation', + }); + } + + let untemplatedSeq, + untemplatedSeqSize; + + // Special case with a sequence insertion between the 2 fusion parts + if (parts.length === 3) { + const [, insertion] = parts; + + // When implemented, sequence insertion need to be in RNA + // if following HGVS standards restricting fusion to 'r' prefix + if (!/^[ACGU]+$/.test(insertion.toUpperCase())) { + throw new ParsingError({ + message: 'Insertion sequence of fusion variant should be given in ribonucleotides', + input: string, + violatedAttr: 'alphabet', + }); + } + untemplatedSeq = insertion.toUpperCase(); + untemplatedSeqSize = insertion.length; + } + + // Standard 2-parts fusion - Parsing individual parts + const t1 = parseFusionPart(parts[0], requireFeatures); + const t2 = parseFusionPart(parts[parts.length - 1], requireFeatures); // skip middle part if one + + // Prefix + let prefix; + + if (t1.prefix === t2.prefix) { + // Since each fusion part have it's own prefix, a prefix at the variant + // level is only given if they are the same + prefix = t1.prefix; + } + + try { + return createVariantNotation({ + ...t1, + prefix: prefix || null, + requireFeatures, + reference2: t2.reference1, + break2Start: t2.break1Start, + break2End: t2.break1End, + untemplatedSeq, + untemplatedSeqSize, + }); + } catch (err: any) { + if (err.content) { + err.content.parsed = { + string, + reference1: t1.reference1, + reference2: t2.reference1, + }; + } + throw err; + } +}; + /** * Parse variant shorthand. Checks and validates notation * @@ -449,10 +645,15 @@ const parseVariant = (string, requireFeatures = true) => { input: string, }); } + // New fusion nomenclature handling (KBDEV-974) + if (string.split('::').length > 1) { + return parseFusion(string, requireFeatures); + } + // Feature vs Variant strings const split = string.split(':'); if (split.length > 2) { - throw new ParsingError({ message: 'Variant notation must contain a single colon', input: string, violatedAttr: 'punctuation' }); + throw new ParsingError({ message: 'Apart from new fusion nomenclature, variant notation must contain a single colon', input: string, violatedAttr: 'punctuation' }); } else if (split.length === 1) { if (!requireFeatures) { split.unshift(null); diff --git a/test/index.test.ts b/test/index.test.ts index 25a091d..2f2476f 100644 --- a/test/index.test.ts +++ b/test/index.test.ts @@ -153,7 +153,7 @@ test.each([ ['12:y.q13_q14insATCG', 'cannot define sequence elements (untemplatedSeq) at the cytoband level'], ['FEATURE:f.G12D', 'not an accepted prefix'], ['FEATURE:pG12D', 'Missing \'.\' separator after prefix'], - ['FEATURE:OTHER:pG12D', 'Variant notation must contain a single colon'], + ['FEATURE:OTHER:pG12D', 'Apart from new fusion nomenclature, variant notation must contain a single colon'], ['FEATURE:p.G12_HH13insH', 'Failed to parse the initial position'], ['p.G12K', 'Feature name not specified'], ['(,):()', 'Multi-feature notation must be a minimum of six characters'], diff --git a/test/variant.test.ts b/test/variant.test.ts index 6ad21b6..7ecf47d 100644 --- a/test/variant.test.ts +++ b/test/variant.test.ts @@ -1,3 +1,4 @@ +import data from '../data/variants'; import { stringifyVariant, stripParentheses, @@ -8,7 +9,7 @@ import { import { createPosition } from '../src/position'; import { NOTATION_TO_TYPES } from '../src/constants'; -describe('VariantNotation', () => { +describe('createVariantNotation', () => { test('use object name if no sourceId on reference', () => { const notation = createVariantNotation({ reference1: { name: 'KRAS' }, @@ -159,3 +160,28 @@ describe('jsonifyVariant', () => { }); }); }); + +describe('parseVariant & stringifyVariant', () => { + const variants = { + ...data.standardVariants, + ...data.legacyNomenclatureFusionVariants, + ...data.newNomenclatureFusionVariants, + }; + + test.each(Object.keys(variants))('Parsing and stringifying back %s', (variantString) => { + const variantNotation = parseVariant(variantString); + + // Parse variant string and compare notations + expect(variantNotation).toStrictEqual( + expect.objectContaining({ + ...variants[variantString], + break1Start: expect.objectContaining( + variants[variantString].break1Start, + ), + }), + ); + // Strignify notation and compare variant strings + const newFusion = variantString.split('::').length > 1; + expect(stringifyVariant(variants[variantString], newFusion)).toBe(variantString); + }); +});