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ielis authored Dec 28, 2023
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# LIRICAL

[![GitHub release](https://img.shields.io/github/release/TheJacksonLaboratory/LIRICAL.svg)](https://github.com/TheJacksonLaboratory/LIRICAL/releases)
[![Java CI with Maven](https://github.com/TheJacksonLaboratory/LIRICAL/workflows/Java%20CI%20with%20Maven/badge.svg)](https://github.com/TheJacksonLaboratory/LIRICAL/actions/workflows/maven.yml)

# LIRICAL
LIRICAL (LIkelihood Ratio Interpretation of Clinical AbnormaLities)
is designed to provide clinically interpretable computational analysis of phenotypic
abnormalities (encoded using the [Human Phenotype Ontology](http://www.human-phenotype-ontology.org)),
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](https://pubmed.ncbi.nlm.nih.gov/32755546/).
The prioritized diseases are reported in human-friendly HTML report.
The report summarizes the most likely differential diagnoses:

<img src="docs/_static/lirical-sparkline-lds2.top5.png" alt="Top matches" width="800"/>

and breaks down the contributions of the HPO terms and deleterious variants in the associated genes for each diagnosis:

<img src="docs/_static/lirical-detailed-TGFBR2.png" alt="" width="800" title="Diff dg"/>

The report is also available in JSON/TSV formats suitable for programmatic post-processing.


## Availability
Most users should download the latest distribution ZIP file from
the [Releases page](https://github.com/TheJacksonLaboratory/LIRICAL/releases).

Most users should download the latest distribution ZIP file from the [Releases page](https://github.com/TheJacksonLaboratory/LIRICAL/releases).


## Learn more

## Documentation
Please consult the documentation for installation instructions and a tutorial:
- [reference documentation](https://thejacksonlaboratory.github.io/LIRICAL/stable)
- [edge release documentation](https://thejacksonlaboratory.github.io/LIRICAL/latest)
Read more about the LIRICAL *algorithm*
in the manuscript available at the [American Journal of Human Genetics](https://pubmed.ncbi.nlm.nih.gov/32755546/).

Consult the documentation for *installation instructions* and a *tutorial*:
- [Stable documentation](https://thejacksonlaboratory.github.io/LIRICAL/stable)
- [Edge release documentation](https://thejacksonlaboratory.github.io/LIRICAL/latest)

## API docs
Developers can access Javadoc at:
- [reference](https://thejacksonlaboratory.github.io/LIRICAL/stable/apidocs)
- [edge release](https://thejacksonlaboratory.github.io/LIRICAL/latest/apidocs)
Developers can access *API reference* at:
- [Stable](https://thejacksonlaboratory.github.io/LIRICAL/stable/apidocs)
- [Edge release](https://thejacksonlaboratory.github.io/LIRICAL/latest/apidocs)
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