molgenis / vip

Variant Interpretation Pipeline
https://molgenis.github.io/vip/
GNU Lesser General Public License v3.0
23 stars 5 forks source link

ncER GRCh38 data contains overlapping values #579

Open bartcharbon opened 7 months ago

bartcharbon commented 7 months ago

ncER scores should be unique, however due to the resource being liftovered from GRCh37, the bins are overlapping in some places. This leads to errors in annotation.

Possible solution: retrieve 1bp resolution file: https://github.com/TelentiLab/ncER_datasets Liftover and use this file.