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iobio / clin.iobio

Clin.iobio - Workflow and reporting for iobio variant analysis pipeline
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HPO gene selection fails (genepanel) #476

Open AlistairNWard opened 2 years ago

AlistairNWard commented 2 years ago

Go to genepanel and enter the terms at the end of this issue. Just take the HPO terms that are automatically selected, then, when the list is complete, go to the HPO tab. There is a chart where I can select the genes overlapping a certain number of HPO terms, but it doesn't work. I want to select all genes that overlap 7 or more terms, but it won't let me

Screen Shot 2022-07-12 at 10 13 01 AM

Ventricular septal defect HP:0001629, Atrial septal defect HP:0001631, Coarctation of aorta HP:0001680, Double outlet right ventricle HP:0001719 Anal stenosis HP:0002025 Abnormality of the cervical spine HP:0003319 Multicystic kidney dysplasia HP:0000003 Cerebellar hypoplasia HP:0001321 Hypospadias HP:0000047 Bifid scrotum HP:0000048 Cryptorchidism HP:0000028 Ambiguous genitalia HP:0000062 Dysplastic corpus callosum HP:0006989 Cerebellar vermis hypoplasia HP:0001320 Cerebellar hypoplasia HP:0001321 Apnea HP:0002104

AlistairNWard commented 1 year ago

Not sure if anyone has the bandwidth to look at this, but we're pushing Calypso to the UDN and should be releasing Mosaic on the joint called data today or tomorrow. I'm using genepanel and clin to look at some cases and keep seeing this. I know this isn't a good time, so don't worry if you can't, just wanted to see if it's a quick fix @stefinfection @tonydisera