v2.7.2 | 27.06.2023
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 (opens new window).
Features:
- 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.
# Contents
- Technical documentation:
- Setup: Instructions for setting up the annotation service.
- Annotation: Details about annotation sources, and how to update and add your own.
- System internals: Technical details and inner workings of the service.
- Release notes: Versions and changes.
# Support
For support and requests, contact ella-support.