# Gene panels


This documentation is a work in progress and may be incomplete.

Everything in ELLA revolves around gene panels, and they're an essential part of the configuration. Note that a gene panel doesn't have to be a targeted panel in the traditional sense, but can include all genes in the exome if desired.

A gene panel includes, among other things, the following:

  • A list of transcripts, with associated gene name/id and transcript + exon coordinates
  • A list of phenotypes, with associated inheritance pattern

To add a new gene panel, run the following command:

ella-cli deposit genepanel --folder <path to gene panel directory>

Note that <PanelName>_<version>.transcripts.csv and <PanelName>_<version>.phenotypes.csv files are required.

Last Updated: 8/30/2022, 11:48:19 AM