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.buildpath | ||
.idea | ||
.project | ||
.settings |
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<p align="center"> | ||
<img src="https://repository-images.githubusercontent.com/212736090/2759df80-fe9e-11e9-8fa0-8237e35cbaf7" width="400px" alt="Open Pedigree logo"/> | ||
</p> | ||
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<p align="center"> | ||
<a href="https://opensource.org/licenses/LGPL-2.1" target="_blank"> | ||
<img src="https://img.shields.io/badge/license-LGPL--2.1-blue.svg" alt="LGPL-2.1"> | ||
</a> | ||
<img src="https://img.shields.io/badge/made%20in-canada-red.svg" alt="Made with love"> | ||
</p> | ||
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## A free and open-source pedigree tool powered by PhenoTips | ||
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Open Pedigree is a robust browser-based genomic pedigree drawing solution using [Prototype](prototypejs.org), [Raphaël](https://dmitrybaranovskiy.github.io/raphael/), and [PhenoTips](https://phenotips.org). | ||
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<img width="983" alt="image" src="https://user-images.githubusercontent.com/4251264/68103796-e1048080-fe9d-11e9-9353-6b491aae588d.png"> | ||
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## Features | ||
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✔ Robust support for complext families, intergenerational linkages, and consanguinity | ||
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✔ Shade nodes with disorders and/or candidate genes | ||
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✔ Quickly start with family templates | ||
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✔ Automatic consanguinity detection | ||
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✔ Import from PED, LINKAGE, GEDCOM (Cyrillic), or BOADICEA | ||
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## Getting started | ||
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Quickly get started with open pedigree on your computer: | ||
``` | ||
git clone git@github.com:phenotips/open-pedigree.git | ||
cd open-pedigree | ||
npm install | ||
npm start | ||
``` | ||
Open a browser to http://localhost:9000/ | ||
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## Contributing | ||
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Contributions welcome! Fork the repository and create a pull request to share your improvements with the community. | ||
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In order to ensure that the licensing is clear and stays open, you'll be asked to sign a CLA with your first pull request. | ||
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## Support | ||
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This is free software! Create an issue in GitHub to ask others for help, or try fixing the issue yourself and then make a pull request to contribute it back to the core. | ||
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For commercial support or for information about the paid Enterprise version, please contact [Gene42](https://gene42.com/). | ||
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## License | ||
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Copyright (c) 2019 Gene42 Inc. | ||
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Open Pedigree is distributed under the [LGPL-2.1](https://opensource.org/licenses/LGPL-2.1) (GNU Lesser General Public License). | ||
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You can easily comply with this license by: | ||
* including prominent notice of the use of Open Pedigree in your software that uses it | ||
* retaining all copyright notices in the software | ||
* ensuring that any and all changes you make to the software are disclosed and open-sourced under the LGPL | ||
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# FHIR export/import | ||
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The FHIR import/export does not have an actual specification to follow. There is a specification in development, though | ||
we have deviated from it, choosing to use a Composition so that the family history resources and observations can be | ||
bundled together, rather then the List of family history resources in the current specification. Not all data gathered | ||
by the editor has a mapping in the FHIR representation. This means that any data with no mapping will be lost. | ||
Some other aspects of the mapping also do not translate directly, where possible | ||
naming conventions are used to try and account for these. For example the FHIR FamilyHistory resource has a single | ||
name field which is a string. The pedigree editor has a first name, last name and a last name at birth, this will | ||
be written into the FamilyHistory resource as <first name> <last name> (<last name at birth>). When importing the FHIR | ||
resource everything but the last word is the first name and a trailing name in brackets will be taken as last name at birth. | ||
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Heredity options - This can be 'Childless' or 'Infertile' in the editor, but is not currently stored on the fhir resource. | ||
Carrier Status - This can be 'Carrier' or 'Pre-symptomatic' in the editor, but is not currently stored on the fhir resource. | ||
Evaluated - This is a checkbox in the editor, but is not currently stored on the fhir resource. | ||
Lost Contact - This is a checkbox in the editor, but is not currently stored on the fhir resource. | ||
Multiple Sibling Nodes - In the editor you can create a single node to represent multiple siblings, at the moment these | ||
will be saved as a single familiy history resource with no name and the number of siblings will be lost. | ||
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Phenotype and Candidate Genes are both stored as Observation Resources associated with a family history resource. The | ||
system uses a naming convention to distinguish the two, otherwise it tries to match the code system to try and determine | ||
if the observation represents a Phenotype or Candidate gene. | ||
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Life status - This can be 'unborn', 'stillborn' and 'aborted' with an associated gestation age. This will be written into | ||
the deceasedString field on the family history resource in a form like 'stillborn 34 weeks'. |
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