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Add heterozygous skewed allele count to VA
1 parent 0e86c17 commit 0ec7af6

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2 files changed

+26
-2
lines changed

2 files changed

+26
-2
lines changed

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

Lines changed: 6 additions & 1 deletion
Original file line numberDiff line numberDiff line change
@@ -59,6 +59,11 @@ describe('resolveVACohortAlleleFrequency', () => {
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faf95: { popmax: 0.123, popmax_population: 'afr' },
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ancestry_groups: [],
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filters: ['AC0'],
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quality_metrics: {
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allele_balance: {
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alt: { bin_freq: [0, 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19] },
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},
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},
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}
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const variantESDocument = {
@@ -103,7 +108,7 @@ describe('resolveVACohortAlleleFrequency', () => {
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lowComplexityRegion: true,
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lowConfidenceLossOfFunctionError: true,
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lossOfFunctionWarning: true,
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heterozygousSkewedAlleleCount: null,
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heterozygousSkewedAlleleCount: 37,
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},
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},
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]

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

Lines changed: 20 additions & 1 deletion
Original file line numberDiff line numberDiff line change
@@ -371,6 +371,25 @@ const addSubcohorts = (
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return Object.values(subcohortMap)
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}
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type ESFrequencies = {
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quality_metrics: {
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allele_balance: {
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alt?: {
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bin_freq: number[]
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}
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}
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}
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}
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const calculateHeterozygousSkewedAlleleCount = (frequencies: ESFrequencies): number | null => {
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const { alt } = frequencies.quality_metrics.allele_balance
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if (!alt) {
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return null
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}
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return alt.bin_freq[18] + alt.bin_freq[19]
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}
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export const resolveVACohortAlleleFrequencies = async (
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obj: any,
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args: any,
@@ -393,7 +412,7 @@ export const resolveVACohortAlleleFrequencies = async (
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lowComplexityRegion: obj.flags.includes('lcr'),
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lowConfidenceLossOfFunctionError: obj.flags.includes('lc_lof'),
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lossOfFunctionWarning: obj.flags.includes('lof_flag'),
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heterozygousSkewedAlleleCount: null,
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heterozygousSkewedAlleleCount: calculateHeterozygousSkewedAlleleCount(frequencies),
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}
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const fullSet: Subset = {

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