LIRICAL

github.com/thejacksonlaboratory/lirical

Interpretable Clinical Genomics with a Likelihood Ratio Paradigm. LIkelihood Ratio Interpretation of Clinical AbnormaLities. 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.

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