v2.0-rc | 27.03.2020
These pages describe ELLA's annotation service, which is required by ELLA to import variants and analyses. For documentation about the ELLA application itself, see allel.es/docs.
- Annotates variants with prediction, population frequencies and external mutation databases (VEP, gnomAD and ClinVar by default).
- Converts manual import data, with support for HGVS, VCF and SeqPilot formats.
- Extracts PubMed IDs from ClinVar and (optional) HGMD data.
- Technical documentation:
- Release notes: Versions and changes.
For support and requests, contact ella-support.