LIRICAL is designed to provide clincially 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.
Please consult the Read the docs site for Detailed documentation.
Most users should download the latest LIRICAL.jar file from the Releases page.