populationgenomics / automated-interpretation-pipeline

Rare Disease variant prioritisation MVP
MIT License
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Make it clear which samples are in which callsets #346

Open MattWellie opened 5 months ago

MattWellie commented 5 months ago

AIP currently takes both Small and Structural variants - at this point in time the samples present in the SV callset are a subset of the small variant calling.

It is not currently clear at a glance which samples lack SV calls, so presence/absence of calls can be misleading.

Add an attribute in the top table showing whether a sample was present in each callset

Possible extra - a check that the full family or partial family was present in each callset