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# LIRICAL | ||
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[![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) | ||
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# 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. | ||
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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: | ||
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<img src="docs/_static/lirical-sparkline-lds2.top5.png" alt="Top matches" width="800"/> | ||
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and breaks down the contributions of the HPO terms and deleterious variants in the associated genes for each diagnosis: | ||
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<img src="docs/_static/lirical-detailed-TGFBR2.png" alt="" width="800" title="Diff dg"/> | ||
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The report is also available in JSON/TSV formats suitable for programmatic post-processing. | ||
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## Availability | ||
Most users should download the latest distribution ZIP file from | ||
the [Releases page](https://github.com/TheJacksonLaboratory/LIRICAL/releases). | ||
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Most users should download the latest distribution ZIP file from the [Releases page](https://github.com/TheJacksonLaboratory/LIRICAL/releases). | ||
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## Learn more | ||
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## 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/). | ||
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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) | ||
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## 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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