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Update ClinVar pipeline for new XML format #1652

Merged
merged 10 commits into from
Nov 19, 2024
Merged
1 change: 1 addition & 0 deletions .tool-versions
Original file line number Diff line number Diff line change
@@ -1,2 +1,3 @@
nodejs 18.17.1
pnpm 8.14.3
python 3.9.17
2 changes: 1 addition & 1 deletion browser/src/ClinvarVariantsTrack/ClinvarVariantDetails.tsx
Original file line number Diff line number Diff line change
Expand Up @@ -137,7 +137,7 @@ const ClinvarVariantDetails = ({
[]
)}
</AttributeListItem>
<AttributeListItem label="Clinical significance">
<AttributeListItem label="Germline classification">
{clinvarVariant.clinical_significance}
</AttributeListItem>
<AttributeListItem label="Review status">
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2 changes: 1 addition & 1 deletion browser/src/ClinvarVariantsTrack/ClinvarVariantTooltip.tsx
Original file line number Diff line number Diff line change
Expand Up @@ -72,7 +72,7 @@ const ClinvarVariantTooltip = ({ variant }: ClinvarVariantTooltipProps) => (
<strong>{variant.variant_id}</strong>
<ClinvarVariantAttributeList>
<div>
<dt>Clinical significance</dt>
<dt>Germline classification</dt>
<dd>{variant.clinical_significance}</dd>
</div>
<div>
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2 changes: 2 additions & 0 deletions browser/src/ClinvarVariantsTrack/clinvarVariantCategories.ts
Original file line number Diff line number Diff line change
Expand Up @@ -13,6 +13,7 @@ const CLINICAL_SIGNIFICANCE_GROUPS = {
uncertain: new Set([
'Uncertain significance',
'Conflicting interpretations of pathogenicity',
'Conflicting classifications of pathogenicity',
'conflicting data from submitters',
]),
benign: new Set(['Benign', 'Likely benign', 'Benign/Likely benign']),
Expand All @@ -22,6 +23,7 @@ const CLINICAL_SIGNIFICANCE_GROUPS = {
'Affects',
'protective',
'no interpretation for the single variant',
'no classification for the single variant',
'not provided',
'association not found',
]),
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2 changes: 1 addition & 1 deletion browser/src/SubmissionsList.tsx
Original file line number Diff line number Diff line change
Expand Up @@ -45,7 +45,7 @@ const SubmissionsList = ({ submissions }: SubmissionsListProps) => (
// @ts-expect-error TS(2769) FIXME: No overload matches this call.
.reduce((acc, el, i) => (i === 0 ? [...acc, el] : [...acc, ', ', el]), [])}
</AttributeListItem>
<AttributeListItem label="Clinical significance">
<AttributeListItem label="Germline classification">
{submission.clinical_significance || '–'}
</AttributeListItem>
<AttributeListItem label="Review status">{submission.review_status}</AttributeListItem>
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2 changes: 1 addition & 1 deletion browser/src/VariantPage/VariantClinvarInfo.tsx
Original file line number Diff line number Diff line change
Expand Up @@ -50,7 +50,7 @@ const VariantClinvarInfo = ({ clinvar }: VariantClinvarInfoProps) => {
[]
)}
</AttributeListItem>
<AttributeListItem label="Clinical significance">
<AttributeListItem label="Germline classification">
{clinvar.clinical_significance}
</AttributeListItem>
<AttributeListItem label="Review status">
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4 changes: 2 additions & 2 deletions browser/src/__snapshots__/SubmissionsList.spec.tsx.snap
Original file line number Diff line number Diff line change
Expand Up @@ -19,7 +19,7 @@ exports[`SubmissionsList has no unexpected changes 1`] = `
</Link__ExternalLink>
</AttributeListItem>
<AttributeListItem
label="Clinical significance"
label="Germline classification"
>
Benign
</AttributeListItem>
Expand Down Expand Up @@ -52,7 +52,7 @@ exports[`SubmissionsList has no unexpected changes 1`] = `
</Link__ExternalLink>
</AttributeListItem>
<AttributeListItem
label="Clinical significance"
label="Germline classification"
>
Benign
</AttributeListItem>
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2 changes: 1 addition & 1 deletion data-pipeline/requirements.txt
Original file line number Diff line number Diff line change
@@ -1,5 +1,5 @@
elasticsearch~=7.17
hail==0.2.127
hail==0.2.128
tqdm
loguru
attrs
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