generated from frehburg/TemplateForPythonProjects
-
Notifications
You must be signed in to change notification settings - Fork 0
Commit
This commit does not belong to any branch on this repository, and may belong to a fork outside of the repository.
* fix * add * updates * fix * updates * fix * fix
- Loading branch information
Showing
124 changed files
with
22,183 additions
and
24 deletions.
There are no files selected for viewing
This file contains bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters
Original file line number | Diff line number | Diff line change |
---|---|---|
@@ -0,0 +1,4 @@ | ||
# Sphinx build info version 1 | ||
# This file hashes the configuration used when building these files. When it is not found, a full rebuild will be done. | ||
config: 45ad4954641211c682a428c6267bf25a | ||
tags: 645f666f9bcd5a90fca523b33c5a78b7 |
Binary file not shown.
Binary file not shown.
Binary file not shown.
Binary file not shown.
Binary file not shown.
Binary file not shown.
Binary file not shown.
Binary file not shown.
File renamed without changes.
File renamed without changes.
File renamed without changes.
File renamed without changes.
Binary file added
BIN
+68.3 KB
_build/html/_downloads/c4cb9f0822ae1463eae8890627038e61/rd_cdm_v2_0_0_dev0.xlsx
Binary file not shown.
File renamed without changes.
File renamed without changes.
File renamed without changes.
File renamed without changes.
Loading
Sorry, something went wrong. Reload?
Sorry, we cannot display this file.
Sorry, this file is invalid so it cannot be displayed.
Loading
Sorry, something went wrong. Reload?
Sorry, we cannot display this file.
Sorry, this file is invalid so it cannot be displayed.
Loading
Sorry, something went wrong. Reload?
Sorry, we cannot display this file.
Sorry, this file is invalid so it cannot be displayed.
109 changes: 109 additions & 0 deletions
109
_build/html/_sources/background/background_file.rst.txt
This file contains bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters
Original file line number | Diff line number | Diff line change |
---|---|---|
@@ -0,0 +1,109 @@ | ||
.. _background_file: | ||
|
||
RD CDM Background | ||
================= | ||
|
||
.. attention:: | ||
The RD CDM paper is currently under review. As soon as it is published, we | ||
will provide a link to the paper here and all tables and figures will be | ||
available in the paper. | ||
|
||
Introduction | ||
------------ | ||
|
||
Rare diseases (RDs), though individually rare, collectively impact over 260 | ||
million people worldwide, with over 17 million affected in Europe. These | ||
conditions, defined by their low prevalence of fewer than 5 in 10,000 | ||
individuals, are often genetically driven, with over 70% of cases suspected to | ||
have a genetic cause. Despite significant advances in medical research, | ||
RD patients still face lengthy diagnostic delays, often due to a lack of | ||
awareness in general healthcare settings and the rarity of RD-specific knowledge | ||
among clinicians. Misdiagnosis and underrepresentation in routine care further | ||
compound the challenges, leaving many patients without timely and accurate | ||
diagnoses. | ||
|
||
Interoperability plays a critical role in addressing these challenges, | ||
ensuring the seamless exchange and interpretation of medical data through the | ||
use of internationally agreed standards. In the field of rare diseases, where | ||
data is often scarce and scattered, the importance of structured, standardized, | ||
and reusable medical records cannot be overstated. Interoperable data formats | ||
allow for more efficient research, better care coordination, and a clearer | ||
understanding of complex clinical cases. However, existing medical systems often | ||
fail to support the depth of phenotypic and genotypic data required for rare | ||
disease research and treatment, making interoperability a crucial enabler for | ||
improving outcomes in RD care. | ||
|
||
To address these needs, we introduce our RD CDM v2.0.0— a common data model | ||
specifically designed for rare diseases. This RD CDM simplifies the capture, | ||
storage, and exchange of complex clinical data, enabling researchers and | ||
healthcare providers to work with harmonized datasets across different | ||
institutions and countries. The RD CDM is based on the ERDRI-CDS, | ||
a common data set developed by the European Rare Disease Research | ||
Infrastructure (ERDRI) to support the collection of harmonized data for rare | ||
disease research. By extending the ERDRI-CDS with additional concepts and | ||
relationships, based on HL7 FHIR v4.0.1 and the GA4GH Phenopacket Schema v2.0, | ||
the RD CDM provides a comprehensive model for capturing detailed clinical | ||
information alongisde precise genetic data on rare diseases. | ||
|
||
RD CDM Overview | ||
--------------- | ||
|
||
.. image:: ../_static/v2_0_0_dev0/figure1_rd_cdm.png | ||
:alt: RD CDM Diagram | ||
:width: 1400px | ||
|
||
Overview of the RD CDM v2.0.0 showing the data elements and sections. The RD CDM | ||
does not define cardinalities or relationships to allow for nation-specific | ||
balloting and implementation. | ||
|
||
.. note:: | ||
The RD CDM is a community-driven project, and we welcome contributions from | ||
researchers, clinicians, and other stakeholders in the rare disease community. | ||
If you would like to contribute to the RD CDM, please read our `contributing | ||
guidelines <https://rd-cdm.readthedocs.io/en/latest/contributing.html>`_. | ||
|
||
|
||
RD CDM Table Columns | ||
-------------------- | ||
|
||
.. image:: ../_static/v2_0_0_dev0/figure2_rd_cdm.jpeg | ||
:alt: RD CDM Table Columns | ||
:width: 600px | ||
|
||
This Figure Provides an overview of the table columns used to depict our Rare | ||
Disease Common Data Model (RD CDM). Each column's abbreviation, further | ||
definitions, and explanations are given. We recommend referring to this figure | ||
when reading the tables for each section of our RD CDM. | ||
|
||
.. note:: | ||
The table can be found in Figshare at the following link: | ||
`RD CDM v2.0.0 Excel Table <https://figshare.com/articles/dataset/_b_Common_Data_Model_for_Rare_Diseases_b_based_on_the_ERDRI-CDS_HL7_FHIR_and_the_GA4GH_Phenopackets_Schema_v2_0_/26509150>`_. | ||
|
||
|
||
RD CDM Layers of harmonisation | ||
------------------------------ | ||
|
||
.. image:: ../_static/v2_0_0_dev0/figure3_rd_cdm.jpeg | ||
:alt: RD CDM Layers of Harmonisation | ||
:width: 600px | ||
|
||
We analysed to what extent interoperability requirements were met | ||
while harmonising data elements from the ERDRI-CDS, HL7 FHIR resources and | ||
the GA4GH Phenopacket Schema to a single RD CDM. We identified six layers of | ||
harmonisation on the level of each data element: (1) the Alignment Layer, | ||
(2) the Labelling Layer, (3) the Terminology Binding Layer, (4) the Data | ||
Type Layer, (5) the Value Set Layer, and (6) the Value Set Choice Layer. All | ||
layers and their selection criteria are depicted in the figure below. | ||
|
||
While over 95% of all data elements are directly aligned with HL7 FHIR or GA4GH | ||
Phenopackets, only one-third of terminology bindings and 80% of value types | ||
match the specifications outlined by these standards. Our ontology-based | ||
approach results in less than 41% of value sets being directly derived from HL7 | ||
FHIR and GA4GH Phenopacket Schema, with slightly more than 45% of value set | ||
choices were encoded accordingly. | ||
|
||
.. note:: | ||
The RD CDM paper is currently under review. As soon as it is published, we | ||
will provide a link to the paper here and all tables and figures will be | ||
available in the paper. | ||
|
This file contains bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters
Original file line number | Diff line number | Diff line change |
---|---|---|
@@ -0,0 +1,25 @@ | ||
.. _changelog: | ||
|
||
RD CDM Changelog | ||
================ | ||
|
||
.. attention:: | ||
The RD CDM paper is currently under review. As soon as it is published, we | ||
will update the version to 2.0.0 and provide a link to the paper here. | ||
The version 2.0.0.dev0 is the initial release of the RD CDM under review. | ||
|
||
This changelog provides a history of the changes to the RD CDM. | ||
|
||
.. note:: | ||
The RD CDM is currently under active development. We are working on a new | ||
version of the RD CDM which will be available on `Read the Docs <https://rd-cdm.readthedocs.io/en/latest/>`_. | ||
|
||
.. note:: | ||
Previous versions (v1.0 - v1.7) were developed in a German context and are | ||
not publicly available. | ||
|
||
Version 2.0.0.dev0 (2024-09-30) | ||
------------------------------- | ||
|
||
- Initial release of the RD CDM. | ||
|
This file contains bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters
Original file line number | Diff line number | Diff line change |
---|---|---|
@@ -0,0 +1,57 @@ | ||
.. _contributing: | ||
|
||
RD CDM Contributing | ||
=================== | ||
|
||
As we are actively developing the RD CDM, we welcome contributions in the form | ||
of new resources, new concepts, or new relationships. This RD CDM is a | ||
non-balloted extension of the ERDRI-CDS which aims to provide as an | ||
internationally viable template for the development of country-specific | ||
common data models. Furhtermore, the RD CDM is designed to be compatible with | ||
the GA4GH Phenopacket Schema, HL7 FHIR, and the International Patient Summary. | ||
|
||
We encourage contributions to the RD CDM. These contributions can be in the | ||
form of new resources, new concepts, relationships, or implementations. | ||
|
||
If you would like to contribute, please consider the following: | ||
|
||
1. GitHub Issues | ||
----------------- | ||
Feel free to create a new issue on our `GitHub repository <https://github.com/BIH-CEI/rd-cdm/issues>`_. | ||
We welcome feedback, suggestions, and bug reports. | ||
|
||
2. Reach out directly | ||
--------------------- | ||
|
||
If you have any questions or suggestions, please feel free to reach out to us. | ||
You can contact us via email at [email protected]. | ||
|
||
3. Implementation | ||
----------------- | ||
|
||
We actively encourage users to impleemnt and test our RD CDM in various | ||
healthcare information systems. If you have implemented the RD CDM in your | ||
system, please let us know. We would be happy to hear about your experience | ||
and any feedback you may have. | ||
|
||
.. note:: | ||
We are currently working on an implementation of the RD CDM in | ||
REDCap to enable the generation of FHIR Resources and Phenopackets from | ||
REDCap. If you would like to contribute to the implementation or have any | ||
questions, feel free to reach out or find us on `GitHub <https://github.com/BIH-CEI/RareLink>`_. | ||
|
||
4. Documentation | ||
---------------- | ||
|
||
If you would like to contribute to the documentation, please feel free create | ||
an issue in our `GitHub repository <https://github.com/BIH-CEI/rd-cdm/issues>_` | ||
or reach out to us directly. We are always looking for ways to improve our | ||
documentation and welcome any suggestions. | ||
|
||
.. note:: | ||
We are currently working on a new version of the RD CDM documentation | ||
which will be available on `Read the Docs <https://rd-cdm.readthedocs.io/en/latest/>`_. | ||
|
||
|
||
|
||
|
This file contains bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters
Original file line number | Diff line number | Diff line change |
---|---|---|
@@ -0,0 +1,42 @@ | ||
.. _index: | ||
|
||
|
||
Welcome to the RD CDM Documentation! | ||
==================================== | ||
|
||
.. image:: https://readthedocs.org/projects/rd-cdm/badge/?version=latest | ||
:target: https://rd-cdm.readthedocs.io/en/latest/?badge=latest | ||
:alt: Documentation Status | ||
|
||
The Rare Disease Common Data Model (RD CDM) is a non-balloted extension of the | ||
ERDRI-CDS which aims to provide as an internationally viable template for the | ||
development and implementation of country-specific Rare disease common data | ||
models. The RD CDM is designed to be compatible with the GA4GH Phenopacket | ||
Schema, HL7 FHIR, and the International Patient Summary. The ontology-based | ||
approach of the RD CDM allows for the integration of various data sources and | ||
the harmonization of data across different systems. | ||
|
||
.. attention:: | ||
The RD CDM paper is currently under review. As soon as it is published, we | ||
will provide a link to the paper here and all tables and figures will be | ||
available in the paper. | ||
|
||
.. toctree:: | ||
:maxdepth: 2 | ||
:caption: Contents: | ||
|
||
background/background_file | ||
resources/resources_file | ||
usage/usage_file | ||
contributing | ||
license | ||
changelog | ||
|
||
|
||
|
||
Indices and tables | ||
================== | ||
|
||
* :ref:`genindex` | ||
* :ref:`modindex` | ||
* :ref:`search` |
This file contains bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters
Original file line number | Diff line number | Diff line change |
---|---|---|
@@ -0,0 +1,20 @@ | ||
.. _license_file: | ||
|
||
RD CDM License | ||
============== | ||
|
||
The RD CDM is licensed under the MIT License. The full text of the license can | ||
be found in the file `LICENSE <https://github.com/BIH-CEI/rd-cdm/blob/af4eaa3589ed80cfafbec4874ed333f79831bb4d/LICENSE>`_. | ||
|
||
We encourage open-source contributions to the RD CDM. If you would like to | ||
contribute, please read our :ref:`contributing` guidelines. | ||
|
||
.. attention:: | ||
|
||
We cannot take responsibility for the correctness of the data in the RD CDM. | ||
The RD CDM is a community-driven project and we encourage contributions from | ||
the community. If you find any errors or have any suggestions, please feel | ||
free to reach out to us. | ||
|
||
|
||
|
This file contains bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters
Original file line number | Diff line number | Diff line change |
---|---|---|
@@ -0,0 +1,51 @@ | ||
.. _resources_file: | ||
|
||
RD CDM Resources | ||
================= | ||
|
||
.. attention:: | ||
The RD CDM paper is currently under review. As soon as it is published, we | ||
will update the version to 2.0.0 and provide a link to the paper here. | ||
The version 2.0.0.dev0 is the initial release of the RD CDM under review. | ||
|
||
In here you find all resources that are available in the RD CDM to download. | ||
|
||
RD CDM v2.0.0.dev0 | ||
------------------- | ||
|
||
Excel Table | ||
~~~~~~~~~~~~ | ||
The table provides an overview of the table columns used to depict our Rare | ||
Disease Common Data Model (RD CDM). You can download the RD CDM v2.0.0.dev0 | ||
in an Excel here: | ||
|
||
- :download:`RD CDM v2.0.0 Excel Table <../_static/v2_0_0_dev0/rd_cdm_v2_0_0_dev0.xlsx>` | ||
|
||
or access it on: `Figshare <https://figshare.com/articles/dataset/_b_Common_Data_Model_for_Rare_Diseases_b_based_on_the_ERDRI-CDS_HL7_FHIR_and_the_GA4GH_Phenopackets_Schema_v2_0_/26509150>`_. | ||
|
||
.. note:: | ||
Each column's abbreviation, further | ||
definitions, and explanations see :ref:`background_file`. | ||
|
||
JSON Files Download | ||
'''''''''''''''''''' | ||
- :download:`Entire RD CDM v2.0.0.dev0 JSON <../../res/v2_0_0_dev0/rd_cdm_v2_0_0_dev0.json>` | ||
- :download:`Code Systems v2.0.0.dev0 JSON <../../res/v2_0_0_dev0/rd_cdm_codesystems_v2_0_0_dev0.json>` | ||
- :download:`Data Elements v2.0.0.dev0 JSON <../../res/v2_0_0_dev0/rd_cdm_data_elements_v2_0_0_dev0.json>` | ||
- :download:`Value Sets v2.0.0.dev0 JSON <../../res/v2_0_0_dev0/rd_cdm_value_sets_v2_0_0_dev0.json>` | ||
|
||
CSV Files Download | ||
'''''''''''''''''''' | ||
- :download:`Combined RD CDM v2.0.0.dev0 CSV <../../res/v2_0_0_dev0/rd_cdm_v2_0_0_dev0.csv>` | ||
- :download:`Code Systems v2.0.0.dev0 CSV <../../res/v2_0_0_dev0/rd_cdm_codesystems_v2_0_0_dev0.csv>` | ||
- :download:`Data Elements v2.0.0.dev0 CSV <../../res/v2_0_0_dev0/rd_cdm_data_elements_v2_0_0_dev0.csv>` | ||
- :download:`Value Sets v2.0.0.dev0 CSV <../../res/v2_0_0_dev0/rd_cdm_value_sets_v2_0_0_dev0.csv>` | ||
|
||
|
||
For additional details, see :ref:`background_file`. | ||
|
||
|
||
|
||
|
||
|
||
|
This file contains bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters
Original file line number | Diff line number | Diff line change |
---|---|---|
@@ -0,0 +1,25 @@ | ||
.. _usage_file: | ||
|
||
RD CDM Usage | ||
============ | ||
|
||
.. attention:: | ||
The RD CDM paper is currently under review. As soon as it is published, we | ||
will provide a link to the paper here and all tables and figures will be | ||
available in the paper. The version 2.0.0.dev0 is the initial release of | ||
the RD CDM under review. | ||
|
||
The RD CDM is developed within an open-source community and is available for use | ||
by researchers, clinicians, and other stakeholders in the rare disease community. | ||
The RD CDM is designed to support the collection of harmonized data for rare | ||
disease research and treatment, making interoperability a crucial enabler for | ||
improving outcomes in RD care. | ||
|
||
Please see the :ref:`license_file` for information on the RD CDM license. | ||
|
||
|
||
.. note:: | ||
The RD CDM is a community-driven project, and we welcome contributions from | ||
researchers, clinicians, and other stakeholders in the rare disease community. | ||
If you would like to contribute to the RD CDM, please read our :ref:`contributing`. | ||
|
Oops, something went wrong.