LIRICAL (LIkelihood Ratio Interpretation of Clinical AbnormaLities) is designed to provide clinically interpretable computational analysis of phenotypic abnormalities (encoded using the Human Phenotype Ontology), optionally combined with an analysis of variants and genotypes if a VCF file is provided with the results of diagnostic gene panel, exome, or genome sequencing.
The prioritized diseases are reported in human-friendly HTML report. The report summarizes the most likely differential diagnoses:
and breaks down the contributions of the HPO terms and deleterious variants in the associated genes for each diagnosis:
The report is also available in JSON/TSV formats suitable for programmatic post-processing.
Most users should download the latest distribution ZIP file from the Releases page.
Read more about the LIRICAL algorithm in the manuscript available at the American Journal of Human Genetics.
Consult the documentation for installation instructions and a tutorial:
Developers can access API reference at: