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Assume genomic description to be GRCh38
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Lines changed: 6 additions & 1 deletion

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src/cgl/index.js

Lines changed: 6 additions & 1 deletion
Original file line numberDiff line numberDiff line change
@@ -228,7 +228,7 @@ const loadGenomicVariant = async (graphkbConn, chromosome, position, ref, alt) =
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// add the genomic variant
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const genomic = rid(await graphkbConn.addVariant({
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content: { ...jsonifyVariant(variant), assembly: 'hg19' },
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content: { ...jsonifyVariant(variant), assembly: 'grch38' },
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existsOk: true,
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target: 'PositionalVariant',
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}));
@@ -251,6 +251,11 @@ const uploadFile = async ({ filename, conn, errorLogPrefix }) => {
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All genomic variants are assumed to be following the HGVS 3'-rule,
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not the VCF 5'-rule. Conversion needed from 'position' to 'pos_CGL'.
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ATTENTION!
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Previously, all genomic variants were assumed to be reported
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on the hg19/GRCh37 genome assembly.
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Now we're assuming they are reported on the latest GRCh38 assembly
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ATTENTION!
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Previously, protein variants were prefered over cds ones, which were
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prefered over genomic ones.

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