search

opentargets / issues

Issue tracker for Open Targets Platform and Open Targets Genetics Portal
https://platform.opentargets.org https://genetics.opentargets.org
Apache License 2.0
12 stars 2 forks source link

ASC evidence, mismatch between disease and mapped EFO? #2687

Closed ravwojdyla closed 2 years ago

ravwojdyla commented 2 years ago

I'm using 22.06 release data, and looking at the Gene Burden data source. It seems like for all lines of evidence coming from ASC (Autism Sequencing Consortium) the diseaseFromSource is autism spectrum disorder, but EFO is mapped to very different phenotypes.

ireneisdoomed commented 2 years ago

Hi @ravwojdyla,

this is indeed a bug in our manual annotation. The only valid EFO term is EFO_0003756. This incorrect annotation is affecting 66 out of 67 ASC evidence.

The data has been fixed and the updated evidence will become available in our next release. We have also implemented a data sanity check so that this won't happen again.

Apologies for the inconvenience and thank you so much for the report!

ravwojdyla commented 2 years ago

Hi @ireneisdoomed thanks for a prompt fix, excited for the next release.