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Merge pull request #172 from ielis/add_showcases_docs_section
Add showcase of apps that use phenopacket-tools.
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.. _rstshowcase: | ||
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Showcase of applications that use phenopacket-tools | ||
=================================================== | ||
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We present a list of tools and applications that use phenopacket-tools to read, build, or Q/C phenopackets. | ||
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We present a list of tools and applications that use phenopacket-tools to read, build, or Q/C phenopackets and other components of the Phenopacket Schema. | ||
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* `LIRICAL <https://www.cell.com/ajhg/fulltext/S0002-9297(20)30230-5>`_ runs phenotype-driven prioritization of Mendelian diseases on a Phenopacket. | ||
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LIRICAL uses `phenopacket-tools-io` to `read phenopackets <https://github.com/TheJacksonLaboratory/LIRICAL/blob/f516e463986880285436fd93540da3c6b7510fb7/lirical-io/src/main/java/org/monarchinitiative/lirical/io/analysis/PhenopacketImportUtil.java#L18>`_. | ||
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.. | ||
TODO | ||
and `phenopacket-tools-validator-core` for input `quality control <>`_. | ||
* `SvAnna <https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-022-01046-6>`_ applies phenotype-driven prioritization on coding and regulatory structural variants in long-read genome sequencing. | ||
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SvAnna uses `phenopacket-tools-io` for `reading input <https://github.com/TheJacksonLaboratory/SvAnna/blob/master/svanna-cli/src/main/java/org/monarchinitiative/svanna/cli/cmd/PhenopacketAnalysisDataUtil.java>`_ | ||
formatted as a phenopacket. | ||
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* `HPO Case Annotator <https://github.com/monarch-initiative/HpoCaseAnnotator>`_ is a GUI application for biocuration of case reports, cohorts and families. | ||
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Hpo Case Annotator uses `phenopacket-tools-builder` for `mapping the entered data into Phenopacket Schema <https://github.com/monarch-initiative/HpoCaseAnnotator/tree/development/hpo-case-annotator-export/src/main/java/org/monarchinitiative/hpo_case_annotator/export/ppv2>`_ | ||
format and `phenopacket-tools-io` for `storing phenopackets <https://github.com/monarch-initiative/HpoCaseAnnotator/blob/509480ff78af3996bdacb6513feedb1f18e39c17/hpo-case-annotator-app/src/main/java/org/monarchinitiative/hpo_case_annotator/app/controller/MainController.java#L727>`_ into JSON files. | ||
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Please let us know about your application by submitting a request on our `issue tracker <https://github.com/phenopackets/phenopacket-tools/issues>`_. |