molgenis / data-transform-vkgl

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When several cdna/transcripts are specified, the cdna in the LUMC route gets messed up #38

Open marikaris opened 3 years ago

marikaris commented 3 years ago

Process variant with this cdna: NM_015074.3:c.184-7_184-6del, NM_183416.3:c.184-7_184-6del

Expected: cDNA is c.184-7_184-6del in output

Observed: cDNA is c.184-7_184-6del, NM_183416.3 in output

gerthijs commented 3 years ago

@marikaris As a workaround to process the cDNA notation for these variants, can we safely ignore everything behind the comma and assume that the first cDNA is linked to the associated transcript in the variant record?

marikaris commented 3 years ago

@marikaris As a workaround to process the cDNA notation for these variants, can we safely ignore everything behind the comma and assume that the first cDNA is linked to the associated transcript in the variant record?

This is the way I wanted to fix it, but of course it's not the most clean way. We're still not in agreement on how to fix it correctly. I'll discuss it with my team. Is this a bug you are affected by?