LIRICAL: LIkelihood Ratio Interpretation of Clinical AbnormaLities

LIRICAL

This application performs phenotype-driven prioritization of candidate diseases and genes in the setting of genomic diagnostics (exome or genome) in which the phenotypic abnormalities are described as Human Phenotype Ontology (HPO) terms.

Contents:

• Setting up LIRICAL
  • Prerequisites
  • Installation of Exomiser as a Java library
  • Installation
  • Exomiser database files
  • The download command
• Running LIRICAL
  • Running LIRICAL with a Phenopacket
  • Running LIRICAL with a YAML file
  • Choosing between YAML and Phenopacket input formats
• LIRICAL output files
  • LIRICAL HTML output
  • LIRICAL TSV output
• LIRICAL: How does it work?
  • LIRICAL’s Phenotype Score
  • LIRICAL’s Genotype Score
• LIRICAL Options
  • Download
  • Running LIRICAL with a phenopacket
  • YAML
• LIRICAL Advanced Options
  • Generating the background files
• Tutorial
  • Setup
  • The data
  • Creating a phenopacket
  • Running LIRICAL
  • Viewing the results