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Illumina / PrimateAI-3D

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Regional primateAI-3D scores #1

Open oferisak opened 1 year ago

oferisak commented 1 year ago

I am trying to retrieve the primateAI-3D score for a specific region using the web app (https://primad.basespace.illumina.com/). It seems that when the web app view is regional (in oppose to gene-centered), the primateAI-3D data is not displayed properly.

Example: If I open the gene view for COL11A1 (https://primad.basespace.illumina.com/gene/COL11A1?dataset=gnomad_r3), I see the primate variants found and the distribution of scores across the gene. However, if I look at the region corresponding to the gene (https://primad.basespace.illumina.com/region/1-102876467-103108872?dataset=gnomad_r3), it seems as if there are no primate variants in the region and the score panel is empty .

relating to the same issue - is there a way to retrieve the per-base primate AI-3D scores for a given region? thank you for a wonderful resource

nmra-ajaffe commented 1 year ago

we have the same feature request - it would be super useful to have the Primate AI-3D score as a column in the exported variant list for a given gene