Concepts

These pages provide in-depth backgound on key aspects of ELLA that are important for the end-user, but that are not immediately visible in the user interface.

Further specification for the technically minded can be found in the Technical documentation.

Contents

  • Workflows: Differences between ANALYSES and VARIANTS workflows.
  • Filtering: Explanation of the different available filters in ELLA, and how to configure.
  • ACMG rules engine: Explanation of how the rules engine for generating suggested ACMG criteria and classifications works.
  • Gene panels: Explanation of how genes are selected and configured for ELLA.
Last Updated: 9/3/2019, 9:35:19 AM