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 (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

# Support

For support and requests, contact ella-support.

Last Updated: 3/27/2020, 11:24:52 AM