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.
A manuscript describing LIRICAL is available at the American Journal of Human Genetics.
Most users should download the latest distribution ZIP file from the Releases page.
Please consult the documentation for installation instructions and a tutorial:
Developers can access Javadoc at: