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Add fraction with 20X coverage VA quality measure
1 parent 42483f2 commit 48baa9c

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2 files changed

+16
-17
lines changed

2 files changed

+16
-17
lines changed

graphql-api/src/graphql/resolvers/va.spec.ts

Lines changed: 2 additions & 2 deletions
Original file line numberDiff line numberDiff line change
@@ -65,7 +65,7 @@ describe('resolveVACohortAlleleFrequency', () => {
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variant_id: '1-123-G-A',
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exome: exomeEsDocument,
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joint: { fafmax: { faf95_max: 0.234, faf95_max_gen_anc: 'amr' } },
68-
coverage: { exome: { mean: 0.345 } },
68+
coverage: { exome: { mean: 0.345, over_20: 0.456 } },
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}
7070

7171
test('parses a single CohortAlleleFrequency correctly', async () => {
@@ -95,7 +95,7 @@ describe('resolveVACohortAlleleFrequency', () => {
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subcohortFrequency: [],
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qualityMeasures: {
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meanDepth: 0.345,
98-
fractionCoverage20x: null,
98+
fractionCoverage20x: 0.456,
9999
monoallelic: null,
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qcFilters: null,
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lowComplexityRegion: null,

graphql-api/src/graphql/resolvers/va.ts

Lines changed: 14 additions & 15 deletions
Original file line numberDiff line numberDiff line change
@@ -197,7 +197,7 @@ type Subset = {
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homozygote_count: number
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grpMax?: GrpMaxFAF95
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jointGrpMax?: GrpMaxFAF95
200-
meanDepth: number
200+
qualityMeasures: QualityMeasures
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}
202202

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const GNOMAD_V4_DERIVATION = {
@@ -271,18 +271,6 @@ const resolveVACohortAlleleFrequency = (
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hemizygotes: subset.hemizygote_count !== undefined ? subset.hemizygote_count : null,
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}
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274-
// const coverage = obj.coverage.exome && obj.coverage.exome
275-
const qualityMeasures = {
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meanDepth: subset.meanDepth,
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fractionCoverage20x: null, // TK
278-
qcFilters: null, // TK
279-
monoallelic: null, // TK
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lowComplexityRegion: null, // TK
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lowConfidenceLossOfFunctionError: null, // TK
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lossOfFunctionWarning: null, // TK
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heterozygousSkewedAlleleCount: null, // TK
284-
}
285-
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return {
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id,
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label,
@@ -294,7 +282,7 @@ const resolveVACohortAlleleFrequency = (
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alleleFrequency: subset.ac / subset.an,
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cohort,
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ancillaryResults,
297-
qualityMeasures,
285+
qualityMeasures: subset.qualityMeasures,
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}
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}
300288

@@ -397,6 +385,17 @@ export const resolveVACohortAlleleFrequencies = async (
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? [obj.exome, obj.coverage.exome]
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: [obj.genome, obj.coverage.genome]
399387

388+
const qualityMeasures = {
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meanDepth: coverage && coverage.mean ? coverage.mean : null,
390+
fractionCoverage20x: coverage && coverage.over_20 ? coverage.over_20 : null,
391+
monoallelic: null,
392+
qcFilters: null,
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lowComplexityRegion: null,
394+
lowConfidenceLossOfFunctionError: null,
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lossOfFunctionWarning: null,
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heterozygousSkewedAlleleCount: null,
397+
}
398+
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const fullSet: Subset = {
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ac: frequencies.ac,
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an: frequencies.an,
@@ -415,7 +414,7 @@ export const resolveVACohortAlleleFrequencies = async (
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confidenceInterval: 0.95,
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}
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: undefined,
418-
meanDepth: coverage && coverage.mean ? coverage.mean : null,
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qualityMeasures,
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}
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const subsets = [fullSet, ...(frequencies.ancestry_groups as Subset[])]
421420
const cohortsWithoutSubcohorts = subsets.map((subset) =>

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