@molgenis/vip-report-template 7.1.3 → 8.0.0
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/.gitattributes +3 -1
- package/README.md +13 -0
- package/eslint.config.mjs +6 -1
- package/package.json +6 -5
- package/scripts/validateConfig/README.txt +5 -0
- package/scripts/validateConfig/compileValidator.ts +17 -0
- package/scripts/validateConfig/createSchema.ts +6 -0
- package/scripts/validateConfig/schema.ts +370 -0
- package/src/App.tsx +2 -1
- package/src/components/DatasetDropdown.tsx +1 -1
- package/src/components/GenomeBrowser.tsx +14 -4
- package/src/components/RecordsTable.tsx +23 -6
- package/src/components/VariantConsequenceContainer.tsx +9 -2
- package/src/components/VariantInfoTable.tsx +1 -1
- package/src/components/VariantsContainer.tsx +47 -9
- package/src/components/VariantsContainerHeader.tsx +1 -8
- package/src/components/field/composed/FieldGenotype.tsx +1 -1
- package/src/components/field/composed/FieldGenotypeStr.tsx +18 -10
- package/src/components/field/composed/FieldGnomAd.tsx +1 -1
- package/src/components/field/composed/FieldInheritanceModes.tsx +1 -4
- package/src/components/field/composed/FieldVkgl.tsx +1 -1
- package/src/components/field/typed/FieldCategorical.tsx +1 -1
- package/src/components/field/typed/FieldCharacter.tsx +1 -1
- package/src/components/field/typed/FieldFlag.tsx +1 -1
- package/src/components/field/typed/FieldFloat.tsx +1 -1
- package/src/components/field/typed/FieldInteger.tsx +1 -1
- package/src/components/field/typed/FieldString.tsx +1 -1
- package/src/components/filter/Filter.tsx +1 -0
- package/src/components/filter/composed/FilterAllelicImbalance.tsx +1 -0
- package/src/components/filter/composed/FilterComposed.tsx +7 -0
- package/src/components/filter/composed/FilterDeNovo.tsx +1 -0
- package/src/components/filter/composed/FilterHpo.tsx +1 -0
- package/src/components/filter/composed/FilterInheritance.tsx +1 -0
- package/src/components/filter/composed/FilterLocus.tsx +17 -3
- package/src/components/filter/composed/FilterPick.tsx +30 -0
- package/src/components/filter/composed/FilterVipC.tsx +1 -0
- package/src/components/filter/composed/FilterVipCS.tsx +1 -0
- package/src/components/filter/fixed/FilterFixed.tsx +7 -0
- package/src/components/filter/typed/FilterCategorical.tsx +18 -1
- package/src/components/filter/typed/FilterFlag.tsx +2 -0
- package/src/components/filter/typed/FilterInterval.tsx +29 -1
- package/src/components/filter/typed/FilterString.tsx +8 -1
- package/src/components/filter/typed/FilterTyped.tsx +1 -0
- package/src/components/form/ButtonApply.tsx +6 -2
- package/src/mocks/GRCh38/README.txt +15 -0
- package/src/mocks/GRCh38/decisionTree.json +201 -0
- package/src/mocks/GRCh38/family.ped +6 -0
- package/src/mocks/GRCh38/field_metadata.json +36 -11
- package/src/mocks/GRCh38/sample1.ped +1 -0
- package/src/mocks/GRCh38/static.ts +36 -148
- package/src/mocks/GRCh38/str.ped +1 -0
- package/src/mocks/GRCh38/vcf/family.db.blob +0 -0
- package/src/mocks/GRCh38/vcf/family.vcf +312 -0
- package/src/mocks/GRCh38/vcf/fixPaths.sql +7 -0
- package/src/mocks/GRCh38/vcf/no_vep.db.blob +0 -0
- package/src/mocks/GRCh38/vcf/{no_vep.vcf.blob → no_vep.vcf} +1 -1
- package/src/mocks/GRCh38/vcf/samples_0.db.blob +0 -0
- package/src/mocks/GRCh38/vcf/samples_1.db.blob +0 -0
- package/src/mocks/GRCh38/vcf/samples_100.db.blob +0 -0
- package/src/mocks/GRCh38/vcf/{samples_100.vcf.blob → samples_100.vcf} +6 -6
- package/src/mocks/GRCh38/vcf/str.db.blob +0 -0
- package/src/mocks/GRCh38/vcf/{str.vcf.blob → str.vcf} +17 -17
- package/src/mocks/MockApiClient.ts +60 -226
- package/src/mocks/config_cram.json +4 -0
- package/src/mocks/config_default_values.json +722 -0
- package/src/mocks/config_vcf.json +15 -1
- package/src/mocks/sql-wasm.wasm.blob +0 -0
- package/src/types/config.d.ts +9 -5
- package/src/types/configCells.d.ts +1 -0
- package/src/types/configFilter.d.ts +1 -0
- package/src/types/configFilterComposed.d.ts +3 -0
- package/src/utils/api.ts +21 -49
- package/src/utils/config/configCellsComposed.ts +1 -1
- package/src/utils/config/configCellsField.ts +2 -0
- package/src/utils/config/configFiltersComposed.ts +7 -0
- package/src/utils/config/configFiltersField.ts +3 -2
- package/src/utils/config/configFiltersFixed.ts +7 -0
- package/src/utils/config/configValidator.precompiled.ts +83402 -0
- package/src/utils/config/configValidator.ts +3 -368
- package/src/utils/csq.ts +5 -10
- package/src/utils/decisionTree.ts +8 -9
- package/src/utils/query/query.ts +3 -2
- package/src/utils/query/queryFilter.ts +2 -3
- package/src/utils/query/queryFilterComposed.ts +12 -12
- package/src/utils/query/queryFilterField.ts +14 -7
- package/src/utils/query/queryFilterFixed.ts +5 -5
- package/src/utils/query/querySample.ts +15 -4
- package/src/utils/query/selector.ts +5 -20
- package/src/utils/query/sort.ts +4 -4
- package/src/utils/vcf.ts +20 -11
- package/src/views/Help.tsx +2 -2
- package/src/views/SampleVariant.tsx +4 -1
- package/src/views/Samples.tsx +10 -3
- package/src/views/data/data.tsx +2 -2
- package/tests/utils/config/configFiltersComposed.test.ts +2 -0
- package/tests/utils/config/configFiltersField.test.ts +4 -2
- package/tests/utils/config/configFiltersFixed.test.ts +23 -6
- package/tests/utils/query/query.test.ts +34 -6
- package/tests/utils/query/queryFilter.test.ts +4 -31
- package/tests/utils/query/queryFilterComposed.test.ts +13 -13
- package/tests/utils/query/queryFilterField.test.ts +5 -5
- package/tests/utils/query/queryFilterFixed.test.ts +5 -5
- package/tests/utils/query/querySample.test.ts +50 -10
- package/tests/utils/query/sort.test.ts +1 -1
- package/tests/utils/vcf.test.ts +1 -0
- package/vite.config.mts +2 -1
- package/src/mocks/GRCh37/alignment.cram.blob +0 -0
- package/src/mocks/GRCh37/alignment.cram.crai.blob +0 -0
- package/src/mocks/GRCh37/decisionTree.json +0 -355
- package/src/mocks/GRCh37/fasta/1-10042288-10042788.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/1-152520538-152521038.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/1-16375333-16375833.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/1-16376162-16376662.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/1-17348965-17349469.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/1-17348969-17349469.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/1-17354844-17355344.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/10-126091249-126091749.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/11-134013975-134014475.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/13-77569878-77570378.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/14-105167610-105168110.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/14-89307588-89308088.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/14-89309945-89310445.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/14-89336157-89336657.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/17-29555814-29556314.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/17-29585172-29585672.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/17-29663629-29664129.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/17-29675976-29676476.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/17-29683733-29684233.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/19-11215896-11216396.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/19-11223801-11224301.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/19-17449149-17449649.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/19-17451747-17452247.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/2-47635417-47635917.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/20-62326742-62327242.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/22-50627343-50627843.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/22-50721296-50721796.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/4-106320044-106320544.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/7-42017061-42017561.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/7-42064707-42065207.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/8-145140250-145140750.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/8-61764893-61765393.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/9-107546383-107546883.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/9-107584614-107585114.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/MT-15076-15576.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/X-48932771-48933271.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/fasta/Y-2655391-2655891.fasta.gz.blob +0 -0
- package/src/mocks/GRCh37/field_metadata.json +0 -794
- package/src/mocks/GRCh37/genes.gff.gz.blob +0 -0
- package/src/mocks/GRCh37/sampleTree.json +0 -143
- package/src/mocks/GRCh37/static.ts +0 -189
- package/src/mocks/GRCh37/vcf/family.vcf.blob +0 -134
- package/src/mocks/GRCh38/vcf/family.vcf.blob +0 -272
- package/src/mocks/static.ts +0 -1636
- /package/src/mocks/GRCh38/vcf/{samples_0.vcf.blob → samples_0.vcf} +0 -0
- /package/src/mocks/GRCh38/vcf/{samples_1.vcf.blob → samples_1.vcf} +0 -0
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@@ -23,7 +23,7 @@ describe("query filter fixed", () => {
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const value = ["x"];
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vi.mocked(createQueryFilterString).mockReturnValue(query);
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expect(createQueryFilterField(config, value)).toStrictEqual(query);
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expect(createQueryFilterString).toHaveBeenCalledWith(["n", "f"], value, false
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expect(createQueryFilterString).toHaveBeenCalledWith(["n", "f"], value, false);
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});
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test("CHARACTER count=1 info", () => {
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const value = ["x"];
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vi.mocked(createQueryFilterString).mockReturnValue(query);
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expect(createQueryFilterField(config, value)).toStrictEqual(query);
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expect(createQueryFilterString).toHaveBeenCalledWith(["n", "f"], value, false
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expect(createQueryFilterString).toHaveBeenCalledWith(["n", "f"], value, false);
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});
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test("STRING count=* info nested", () => {
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const value = ["x"];
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vi.mocked(createQueryFilterString).mockReturnValue(query);
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expect(createQueryFilterField(config, value)).toStrictEqual(query);
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expect(createQueryFilterString).toHaveBeenCalledWith(["n", "p", "c"], value, true
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expect(createQueryFilterString).toHaveBeenCalledWith(["n", "p", "c"], value, true);
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});
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test("STRING count=* genotype", () => {
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const field = { id: "f", type: "STRING", number: { type: "OTHER" } } as FieldMetadata;
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const sample = { item: { data: { index: 1 } } } as SampleContainer;
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const sample = { item: { id: 1, data: { index: 1 } } } as SampleContainer;
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const config = { type: "genotype", id: "filter", field, sample } as ConfigFilterFormat;
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const value = ["x"];
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vi.mocked(createQueryFilterString).mockReturnValue(query);
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expect(createQueryFilterField(config, value)).toStrictEqual(query);
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expect(createQueryFilterString).toHaveBeenCalledWith(["s", 1, "f"], value, true
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expect(createQueryFilterString).toHaveBeenCalledWith(["s", 1, "f"], value, true);
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});
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test("FLOAT count=1 info", () => {
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const value = ["chr1"];
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vi.mocked(createQueryFilterString).mockReturnValue(query);
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expect(createQueryFilterFixed(config, value)).toStrictEqual(query);
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expect(createQueryFilterString).toHaveBeenCalledWith(["c"], value, false
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expect(createQueryFilterString).toHaveBeenCalledWith(["c"], value, false);
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});
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test("pos", () => {
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const value = ["id0"];
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vi.mocked(createQueryFilterString).mockReturnValue(query);
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expect(createQueryFilterFixed(config, value)).toStrictEqual(query);
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expect(createQueryFilterString).toHaveBeenCalledWith(["i"], value, true
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expect(createQueryFilterString).toHaveBeenCalledWith(["i"], value, true);
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});
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test("ref", () => {
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const value = ["C"];
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vi.mocked(createQueryFilterString).mockReturnValue(query);
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expect(createQueryFilterFixed(config, value)).toStrictEqual(query);
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expect(createQueryFilterString).toHaveBeenCalledWith(["r"], value, false
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expect(createQueryFilterString).toHaveBeenCalledWith(["r"], value, false);
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});
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test("alt", () => {
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const value = ["C"];
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vi.mocked(createQueryFilterString).mockReturnValue(query);
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expect(createQueryFilterFixed(config, value)).toStrictEqual(query);
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expect(createQueryFilterString).toHaveBeenCalledWith(["a"], value, true
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expect(createQueryFilterString).toHaveBeenCalledWith(["a"], value, true);
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});
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test("qual", () => {
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const value = ["filter0"];
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vi.mocked(createQueryFilterString).mockReturnValue(query);
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expect(createQueryFilterFixed(config, value)).toStrictEqual(query);
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expect(createQueryFilterString).toHaveBeenCalledWith(["f"], value, true
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expect(createQueryFilterString).toHaveBeenCalledWith(["f"], value, true);
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});
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test("invalid", () => {
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import { afterEach, describe, expect, test, vi } from "vitest";
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import { createQuerySample } from "../../../src/utils/query/querySample.ts";
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import { ConfigVip } from "../../../src/types/config";
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import { SampleContainer } from "../../../src/utils/api.ts";
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import { MetadataContainer, SampleContainer, VcfMetadataContainer } from "../../../src/utils/api.ts";
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import { FieldMetadata } from "@molgenis/vip-report-vcf";
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import { createQueryFilterFieldCategorical } from "../../../src/utils/query/queryFilterField.ts";
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import { createSelectorSample } from "../../../src/utils/query/selector.ts";
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import { Query } from "@molgenis/vip-report-api";
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import { FieldMetadataWrapper } from "../../../src/utils/vcf.ts";
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describe("query sample", () => {
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vi.mock(import("../../../src/utils/query/selector.ts"));
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number: { type: "NUMBER", count: 1 },
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categories: {},
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} as FieldMetadata;
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const classes = "
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const classes = "U1,U2";
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const config = { filter_field, params: { vcf: { filter_samples: { classes } } } } as ConfigVip;
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const sample = { item: {
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const sample = { item: { id: 7, data: {} } } as SampleContainer;
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const fieldMetadata = { id: "GT", number: { type: "NUMBER", count: 1 } } as FieldMetadataWrapper;
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const vcfMetadata = {
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format: { GT: fieldMetadata },
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} as Partial<VcfMetadataContainer> as VcfMetadataContainer;
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const meta = {
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app: {},
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records: vcfMetadata,
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variantTypeIds: { }
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} as MetadataContainer
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const selector = ["x"];
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const
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const completeQuery: Query = {
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args: [
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{
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args: "y",
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operator: "==",
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selector: ["x",],
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},
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{
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args: [
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"HOM_REF",
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"NO_CALL",
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"UNAVAILABLE",
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],
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operator: "!in",
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selector: ["s",7,"GT_type",],
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},
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],
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operator: "and",
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};
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const query: Query = {
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args: "y",
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operator: "==",
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selector: ["x",],
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};
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vi.mocked(createSelectorSample).mockReturnValue(selector);
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vi.mocked(createQueryFilterFieldCategorical).mockReturnValue(query);
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expect(createQuerySample(config, sample)).toStrictEqual(
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|
67
|
+
expect(createQuerySample(config, sample, meta)).toStrictEqual(completeQuery);
|
|
36
68
|
expect(createSelectorSample).toHaveBeenCalledWith(sample, filter_field);
|
|
37
69
|
expect(createQueryFilterFieldCategorical).toHaveBeenCalledWith(selector, filter_field, [
|
|
38
|
-
"
|
|
39
|
-
"
|
|
40
|
-
"P",
|
|
70
|
+
"U1",
|
|
71
|
+
"U2",
|
|
41
72
|
"__null",
|
|
42
73
|
]);
|
|
43
74
|
});
|
|
@@ -46,7 +77,16 @@ describe("query sample", () => {
|
|
|
46
77
|
const classes = "VUS,LP,P";
|
|
47
78
|
const config = { filter_field: null, params: { vcf: { filter_samples: { classes } } } } as ConfigVip;
|
|
48
79
|
const sample = { item: { data: { index: 1 } } } as SampleContainer;
|
|
49
|
-
|
|
80
|
+
const fieldMetadata = { id: "GT", number: { type: "NUMBER", count: 1 } } as FieldMetadataWrapper;
|
|
81
|
+
const vcfMetadata = {
|
|
82
|
+
format: { GT: fieldMetadata },
|
|
83
|
+
} as Partial<VcfMetadataContainer> as VcfMetadataContainer;
|
|
84
|
+
const meta = {
|
|
85
|
+
app: {},
|
|
86
|
+
records: vcfMetadata,
|
|
87
|
+
variantTypeIds: { }
|
|
88
|
+
} as MetadataContainer
|
|
89
|
+
expect(createQuerySample(config, sample, meta)).toStrictEqual(null);
|
|
50
90
|
});
|
|
51
91
|
});
|
|
52
92
|
});
|
|
@@ -65,7 +65,7 @@ describe("sort utilities", () => {
|
|
|
65
65
|
test("create record sort order from params sort order with nested path", () => {
|
|
66
66
|
expect(
|
|
67
67
|
createRecordSort(metadata, {
|
|
68
|
-
property: ["n", "n_object0",
|
|
68
|
+
property: ["n", "n_object0", "n_string2"],
|
|
69
69
|
compare: "asc",
|
|
70
70
|
}),
|
|
71
71
|
).toStrictEqual({ orders: [{ field: nString2Meta, direction: DIRECTION_ASCENDING }] });
|
package/tests/utils/vcf.test.ts
CHANGED
package/vite.config.mts
CHANGED
|
@@ -10,6 +10,7 @@ export default defineConfig(({ command }) => ({
|
|
|
10
10
|
pure: command === "build" ? ["console.log"] : [],
|
|
11
11
|
},
|
|
12
12
|
build: {
|
|
13
|
+
target: 'es2022',
|
|
13
14
|
modulePreload: false,
|
|
14
15
|
reportCompressedSize: false,
|
|
15
16
|
// inline plugin build options
|
|
@@ -24,7 +25,7 @@ export default defineConfig(({ command }) => ({
|
|
|
24
25
|
test: {
|
|
25
26
|
coverage: {
|
|
26
27
|
include: ["src/**"],
|
|
27
|
-
exclude: [...coverageConfigDefaults.exclude, "src/mocks/**"],
|
|
28
|
+
exclude: [...coverageConfigDefaults.exclude, "src/mocks/**", "**/*.precompiled.ts"],
|
|
28
29
|
// TODO add .tsx once component tests are added
|
|
29
30
|
extension: [".ts"],
|
|
30
31
|
thresholds: {
|
|
Binary file
|
|
Binary file
|
|
@@ -1,355 +0,0 @@
|
|
|
1
|
-
{
|
|
2
|
-
"rootNode": "filter",
|
|
3
|
-
"nodes": {
|
|
4
|
-
"filter": {
|
|
5
|
-
"label": "filter",
|
|
6
|
-
"type": "BOOL",
|
|
7
|
-
"description": "All filters passed",
|
|
8
|
-
"query": {
|
|
9
|
-
"field": "FILTER",
|
|
10
|
-
"operator": "==",
|
|
11
|
-
"value": ["PASS"]
|
|
12
|
-
},
|
|
13
|
-
"outcomeTrue": {
|
|
14
|
-
"nextNode": "vkgl"
|
|
15
|
-
},
|
|
16
|
-
"outcomeFalse": {
|
|
17
|
-
"nextNode": "exit_lq"
|
|
18
|
-
},
|
|
19
|
-
"outcomeMissing": {
|
|
20
|
-
"nextNode": "vkgl"
|
|
21
|
-
}
|
|
22
|
-
},
|
|
23
|
-
"spliceAI": {
|
|
24
|
-
"label": "spliceAI",
|
|
25
|
-
"type": "BOOL_MULTI",
|
|
26
|
-
"fields": [
|
|
27
|
-
"INFO/CSQ/SpliceAI_pred_DS_AG",
|
|
28
|
-
"INFO/CSQ/SpliceAI_pred_DS_AL",
|
|
29
|
-
"INFO/CSQ/SpliceAI_pred_DS_DG",
|
|
30
|
-
"INFO/CSQ/SpliceAI_pred_DS_DL"
|
|
31
|
-
],
|
|
32
|
-
"outcomes": [
|
|
33
|
-
{
|
|
34
|
-
"operator": "OR",
|
|
35
|
-
"queries": [
|
|
36
|
-
{
|
|
37
|
-
"field": "INFO/CSQ/SpliceAI_pred_DS_AG",
|
|
38
|
-
"operator": ">",
|
|
39
|
-
"value": 0.42
|
|
40
|
-
},
|
|
41
|
-
{
|
|
42
|
-
"field": "INFO/CSQ/SpliceAI_pred_DS_AL",
|
|
43
|
-
"operator": ">",
|
|
44
|
-
"value": 0.42
|
|
45
|
-
},
|
|
46
|
-
{
|
|
47
|
-
"field": "INFO/CSQ/SpliceAI_pred_DS_DG",
|
|
48
|
-
"operator": ">",
|
|
49
|
-
"value": 0.42
|
|
50
|
-
},
|
|
51
|
-
{
|
|
52
|
-
"field": "INFO/CSQ/SpliceAI_pred_DS_DL",
|
|
53
|
-
"operator": ">",
|
|
54
|
-
"value": 0.42
|
|
55
|
-
}
|
|
56
|
-
],
|
|
57
|
-
"outcomeTrue": {
|
|
58
|
-
"nextNode": "exit_lp"
|
|
59
|
-
}
|
|
60
|
-
}
|
|
61
|
-
],
|
|
62
|
-
"outcomeDefault": {
|
|
63
|
-
"nextNode": "annotSV"
|
|
64
|
-
},
|
|
65
|
-
"outcomeMissing": {
|
|
66
|
-
"nextNode": "annotSV"
|
|
67
|
-
}
|
|
68
|
-
},
|
|
69
|
-
"vkgl": {
|
|
70
|
-
"label": "VKGL",
|
|
71
|
-
"type": "CATEGORICAL",
|
|
72
|
-
"description": "VKGL classification",
|
|
73
|
-
"field": "INFO/CSQ/VKGL_CL",
|
|
74
|
-
"outcomeMap": {
|
|
75
|
-
"P": {
|
|
76
|
-
"nextNode": "exit_p"
|
|
77
|
-
},
|
|
78
|
-
"LP": {
|
|
79
|
-
"nextNode": "exit_lp"
|
|
80
|
-
},
|
|
81
|
-
"LB": {
|
|
82
|
-
"nextNode": "exit_lb"
|
|
83
|
-
},
|
|
84
|
-
"B": {
|
|
85
|
-
"nextNode": "exit_b"
|
|
86
|
-
}
|
|
87
|
-
},
|
|
88
|
-
"outcomeMissing": {
|
|
89
|
-
"nextNode": "clinVar"
|
|
90
|
-
},
|
|
91
|
-
"outcomeDefault": {
|
|
92
|
-
"nextNode": "clinVar"
|
|
93
|
-
}
|
|
94
|
-
},
|
|
95
|
-
"annotSV": {
|
|
96
|
-
"label": "AnnotSV",
|
|
97
|
-
"type": "CATEGORICAL",
|
|
98
|
-
"description": "VKGL classification",
|
|
99
|
-
"field": "INFO/CSQ/ASV_ACMG_class",
|
|
100
|
-
"outcomeMap": {
|
|
101
|
-
"5": {
|
|
102
|
-
"nextNode": "exit_p"
|
|
103
|
-
},
|
|
104
|
-
"4": {
|
|
105
|
-
"nextNode": "exit_lp"
|
|
106
|
-
},
|
|
107
|
-
"2": {
|
|
108
|
-
"nextNode": "exit_lb"
|
|
109
|
-
},
|
|
110
|
-
"1": {
|
|
111
|
-
"nextNode": "exit_b"
|
|
112
|
-
}
|
|
113
|
-
},
|
|
114
|
-
"outcomeMissing": {
|
|
115
|
-
"nextNode": "impact"
|
|
116
|
-
},
|
|
117
|
-
"outcomeDefault": {
|
|
118
|
-
"nextNode": "impact"
|
|
119
|
-
}
|
|
120
|
-
},
|
|
121
|
-
"gnomad": {
|
|
122
|
-
"label": "GnomAD",
|
|
123
|
-
"type": "BOOL_MULTI",
|
|
124
|
-
"description": "gnomAD_AF < 0.02 && gnomAD_HN < 5",
|
|
125
|
-
"fields": ["INFO/CSQ/gnomAD_AF", "INFO/CSQ/gnomAD_HN"],
|
|
126
|
-
"outcomes": [
|
|
127
|
-
{
|
|
128
|
-
"operator": "OR",
|
|
129
|
-
"queries": [
|
|
130
|
-
{
|
|
131
|
-
"field": "INFO/CSQ/gnomAD_AF",
|
|
132
|
-
"operator": ">=",
|
|
133
|
-
"value": 0.02
|
|
134
|
-
},
|
|
135
|
-
{
|
|
136
|
-
"field": "INFO/CSQ/gnomAD_HN",
|
|
137
|
-
"operator": ">=",
|
|
138
|
-
"value": 5
|
|
139
|
-
}
|
|
140
|
-
],
|
|
141
|
-
"outcomeTrue": {
|
|
142
|
-
"nextNode": "exit_lb"
|
|
143
|
-
}
|
|
144
|
-
}
|
|
145
|
-
],
|
|
146
|
-
"outcomeDefault": {
|
|
147
|
-
"nextNode": "effect"
|
|
148
|
-
},
|
|
149
|
-
"outcomeMissing": {
|
|
150
|
-
"nextNode": "effect"
|
|
151
|
-
}
|
|
152
|
-
},
|
|
153
|
-
"effect": {
|
|
154
|
-
"label": "Effect",
|
|
155
|
-
"type": "BOOL",
|
|
156
|
-
"description": "Consequence contains 'missense'",
|
|
157
|
-
"query": {
|
|
158
|
-
"field": "INFO/CSQ/Consequence",
|
|
159
|
-
"operator": "contains",
|
|
160
|
-
"value": "missense_variant"
|
|
161
|
-
},
|
|
162
|
-
"outcomeTrue": {
|
|
163
|
-
"nextNode": "sift"
|
|
164
|
-
},
|
|
165
|
-
"outcomeFalse": {
|
|
166
|
-
"nextNode": "spliceAI"
|
|
167
|
-
},
|
|
168
|
-
"outcomeMissing": {
|
|
169
|
-
"nextNode": "spliceAI"
|
|
170
|
-
}
|
|
171
|
-
},
|
|
172
|
-
"clinVar": {
|
|
173
|
-
"label": "ClinVar",
|
|
174
|
-
"type": "BOOL_MULTI",
|
|
175
|
-
"fields": ["INFO/CSQ/CLIN_SIG"],
|
|
176
|
-
"outcomes": [
|
|
177
|
-
{
|
|
178
|
-
"queries": [
|
|
179
|
-
{
|
|
180
|
-
"field": "INFO/CSQ/CLIN_SIG",
|
|
181
|
-
"operator": "contains_any",
|
|
182
|
-
"value": [
|
|
183
|
-
"conflicting_interpretations_of_pathogenicity",
|
|
184
|
-
"conflicting_data_from_submitters",
|
|
185
|
-
"uncertain_significance"
|
|
186
|
-
]
|
|
187
|
-
}
|
|
188
|
-
],
|
|
189
|
-
"outcomeTrue": {
|
|
190
|
-
"nextNode": "gnomad"
|
|
191
|
-
}
|
|
192
|
-
},
|
|
193
|
-
{
|
|
194
|
-
"queries": [
|
|
195
|
-
{
|
|
196
|
-
"field": "INFO/CSQ/CLIN_SIG",
|
|
197
|
-
"operator": "contains_any",
|
|
198
|
-
"value": ["likely_benign", "benign"]
|
|
199
|
-
}
|
|
200
|
-
],
|
|
201
|
-
"outcomeTrue": {
|
|
202
|
-
"nextNode": "exit_lb"
|
|
203
|
-
}
|
|
204
|
-
},
|
|
205
|
-
{
|
|
206
|
-
"queries": [
|
|
207
|
-
{
|
|
208
|
-
"field": "INFO/CSQ/CLIN_SIG",
|
|
209
|
-
"operator": "contains_any",
|
|
210
|
-
"value": ["likely_pathogenic", "pathogenic"]
|
|
211
|
-
}
|
|
212
|
-
],
|
|
213
|
-
"outcomeTrue": {
|
|
214
|
-
"nextNode": "exit_lp"
|
|
215
|
-
}
|
|
216
|
-
}
|
|
217
|
-
],
|
|
218
|
-
"outcomeDefault": {
|
|
219
|
-
"nextNode": "gnomad"
|
|
220
|
-
},
|
|
221
|
-
"outcomeMissing": {
|
|
222
|
-
"nextNode": "gnomad"
|
|
223
|
-
}
|
|
224
|
-
},
|
|
225
|
-
"sift": {
|
|
226
|
-
"label": "SIFT",
|
|
227
|
-
"description": "SIFT qualitative prediction",
|
|
228
|
-
"type": "BOOL",
|
|
229
|
-
"query": {
|
|
230
|
-
"field": "INFO/CSQ/SIFT",
|
|
231
|
-
"operator": "<",
|
|
232
|
-
"value": 0.05
|
|
233
|
-
},
|
|
234
|
-
"outcomeTrue": {
|
|
235
|
-
"nextNode": "exit_lp"
|
|
236
|
-
},
|
|
237
|
-
"outcomeFalse": {
|
|
238
|
-
"nextNode": "polyphen"
|
|
239
|
-
},
|
|
240
|
-
"outcomeMissing": {
|
|
241
|
-
"nextNode": "polyphen"
|
|
242
|
-
}
|
|
243
|
-
},
|
|
244
|
-
"polyphen": {
|
|
245
|
-
"label": "PolyPhen",
|
|
246
|
-
"description": "PolyPhen qualitative prediction",
|
|
247
|
-
"type": "BOOL_MULTI",
|
|
248
|
-
"fields": ["INFO/CSQ/PolyPhen"],
|
|
249
|
-
"outcomes": [
|
|
250
|
-
{
|
|
251
|
-
"queries": [
|
|
252
|
-
{
|
|
253
|
-
"field": "INFO/CSQ/PolyPhen",
|
|
254
|
-
"operator": "<",
|
|
255
|
-
"value": 0.15
|
|
256
|
-
}
|
|
257
|
-
],
|
|
258
|
-
"outcomeTrue": {
|
|
259
|
-
"nextNode": "exit_lb"
|
|
260
|
-
}
|
|
261
|
-
},
|
|
262
|
-
{
|
|
263
|
-
"operator": "AND",
|
|
264
|
-
"queries": [
|
|
265
|
-
{
|
|
266
|
-
"field": "INFO/CSQ/PolyPhen",
|
|
267
|
-
"operator": ">",
|
|
268
|
-
"value": 0.15
|
|
269
|
-
},
|
|
270
|
-
{
|
|
271
|
-
"field": "INFO/CSQ/PolyPhen",
|
|
272
|
-
"operator": "<",
|
|
273
|
-
"value": 0.85
|
|
274
|
-
}
|
|
275
|
-
],
|
|
276
|
-
"outcomeTrue": {
|
|
277
|
-
"nextNode": "exit_vus"
|
|
278
|
-
}
|
|
279
|
-
},
|
|
280
|
-
{
|
|
281
|
-
"queries": [
|
|
282
|
-
{
|
|
283
|
-
"field": "INFO/CSQ/PolyPhen",
|
|
284
|
-
"operator": ">",
|
|
285
|
-
"value": 0.85
|
|
286
|
-
}
|
|
287
|
-
],
|
|
288
|
-
"outcomeTrue": {
|
|
289
|
-
"nextNode": "exit_lp"
|
|
290
|
-
}
|
|
291
|
-
}
|
|
292
|
-
],
|
|
293
|
-
"outcomeDefault": {
|
|
294
|
-
"nextNode": "impact"
|
|
295
|
-
},
|
|
296
|
-
"outcomeMissing": {
|
|
297
|
-
"nextNode": "impact"
|
|
298
|
-
}
|
|
299
|
-
},
|
|
300
|
-
"impact": {
|
|
301
|
-
"label": "IMPACT",
|
|
302
|
-
"type": "CATEGORICAL",
|
|
303
|
-
"description": "IMPACT rating",
|
|
304
|
-
"field": "INFO/CSQ/IMPACT",
|
|
305
|
-
"outcomeMap": {
|
|
306
|
-
"MODIFIER": {
|
|
307
|
-
"nextNode": "exit_lb"
|
|
308
|
-
},
|
|
309
|
-
"LOW": {
|
|
310
|
-
"nextNode": "exit_lb"
|
|
311
|
-
},
|
|
312
|
-
"MODERATE": {
|
|
313
|
-
"nextNode": "exit_vus"
|
|
314
|
-
},
|
|
315
|
-
"HIGH": {
|
|
316
|
-
"nextNode": "exit_lp"
|
|
317
|
-
}
|
|
318
|
-
},
|
|
319
|
-
"outcomeMissing": {
|
|
320
|
-
"nextNode": "exit_vus"
|
|
321
|
-
}
|
|
322
|
-
},
|
|
323
|
-
"exit_rm": {
|
|
324
|
-
"label": "Remove",
|
|
325
|
-
"description": "Low quality variants.",
|
|
326
|
-
"type": "LEAF",
|
|
327
|
-
"class": "LQ"
|
|
328
|
-
},
|
|
329
|
-
"exit_b": {
|
|
330
|
-
"label": "Benign",
|
|
331
|
-
"type": "LEAF",
|
|
332
|
-
"class": "B"
|
|
333
|
-
},
|
|
334
|
-
"exit_lb": {
|
|
335
|
-
"label": "Likely Benign",
|
|
336
|
-
"type": "LEAF",
|
|
337
|
-
"class": "LB"
|
|
338
|
-
},
|
|
339
|
-
"exit_vus": {
|
|
340
|
-
"label": "Unknown Significance",
|
|
341
|
-
"type": "LEAF",
|
|
342
|
-
"class": "VUS"
|
|
343
|
-
},
|
|
344
|
-
"exit_lp": {
|
|
345
|
-
"label": "Likely Pathogenic",
|
|
346
|
-
"type": "LEAF",
|
|
347
|
-
"class": "LP"
|
|
348
|
-
},
|
|
349
|
-
"exit_p": {
|
|
350
|
-
"label": "Pathogenic",
|
|
351
|
-
"type": "LEAF",
|
|
352
|
-
"class": "P"
|
|
353
|
-
}
|
|
354
|
-
}
|
|
355
|
-
}
|
|
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