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name: mk-docs | ||
on: | ||
push: | ||
branches: | ||
- main | ||
- master | ||
jobs: | ||
deploy: | ||
runs-on: ubuntu-latest | ||
steps: | ||
- uses: actions/checkout@v2 | ||
- uses: actions/setup-python@v2 | ||
with: | ||
python-version: 3.x | ||
- run: pip install mkdocs-material | ||
- run: pip install mkdocs-macros-plugin | ||
- run: pip install pymdown-extensions | ||
- run: pip install mkdocs-mermaid2-plugin | ||
- run: pip install mdx_gh_links | ||
- run: pip install mkdocs-with-pdf | ||
- run: mkdocs gh-deploy --force |
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# [hCNV Reference Resources](https://cnvar.org/cnv-reference-resources/) | ||
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**Data & tools for hCNV analysis with a focus on the distributed normal** | ||
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The site was started as a project of the [ELIXIR hCNV Community](https://cnvar.org) | ||
at the [Biohackathon Europe 2023](https://biohackathon-europe.org): | ||
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**[A "batteries-included" open reference resource for human genomic copy number variants (CNV)](https://github.com/elixir-europe/biohackathon-projects-2023/tree/main/1)** | ||
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This sitecan be found at [cnvar.org/cnv-reference-resources/](https://cnvar.org/cnv-reference-resources/). |
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# Beacon CNV Queries | ||
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! hint "Beacon Project Query Documentation" | ||
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The Beacon [project's documentation](http://docs.genomebeacons.org/variant-queries/#beacon-range-queries) includes examples for current queries enabling | ||
discovery of CNVs (in resources supporting these formats). | ||
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==TBD== |
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# hCNV Reference Data Resources | ||
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## 1000 Genomes Dragen | ||
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While primarily focused on somatic variants from cancer genomics the Progenetix | ||
resource also contains [CNV data from the 1000 Genomes Project](https://aws.amazon.com/blogs/industries/dragen-reanalysis-of-the-1000-genomes-dataset-now-available-on-the-registry-of-open-data/). | ||
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* [1000 Genomes CNV](https://progenetix.org/progenetix-cohorts/oneKgenomes/) at Progenetix | ||
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==TBD== |
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# hCNV Reference Resources | ||
##### Data & tools for hCNV analysis with a focus on the distributed normal | ||
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The site was started as a project of the [ELIXIR hCNV Community](https://cnvar.org) | ||
at the [Biohackathon Europe 2023](https://biohackathon-europe.org): | ||
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**[A "batteries-included" open reference resource for human genomic copy number variants (CNV)](https://github.com/elixir-europe/biohackathon-projects-2023/tree/main/1)** | ||
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# hCNV Parameters and Mappings to Output format | ||
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## Collected Parameters | ||
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==TBD== | ||
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## Parameter Output Mappings | ||
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### Beacon v2 Default Model for `genomicVariation` | ||
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* [**Beacon v2 default model source**](https://github.com/ga4gh-beacon/beacon-v2/tree/main/models/src/beacon-v2-default-model) | ||
* [**Beacon v2 default model documentation**](http://docs.genomebeacons.org/models/) | ||
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Beacon v2 provides a default model with its main data entities `individual`, | ||
`biosample`, `analysis`, `run` and `genomicVariation`. The parameters needed for | ||
an hCNV reference resource potentially map to all of those entities; e.g. | ||
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* donor sex => `individual.sex` | ||
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site_name: hCNV Reference Resources | ||
site_description: 'Data & tools for hCNV analysis with a focus on the distributed normal' | ||
site_author: Michael Baudis | ||
repo_name: 'cnv-reference-resources' | ||
repo_url: https://github.com/hCNV/cnv-reference-resources | ||
edit_uri: edit/main/docs/ | ||
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############################################################################### | ||
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nav: | ||
- Project Home: index | ||
- Input Data: data-resources | ||
- Parameters & Mappings: parameters-and-mappings | ||
- Beacon Queries: beacon-queries | ||
- hCNH Home: / | ||
- Biohack 2023 Page: https://github.com/elixir-europe/biohackathon-projects-2023/tree/main/1 | ||
- Beacon Documentation: 'https://docs.genomebeacons.org' | ||
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############################################################################### | ||
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markdown_extensions: | ||
- toc: | ||
toc_depth: 2-3 | ||
permalink: true | ||
- admonition | ||
- attr_list | ||
- footnotes | ||
- md_in_html | ||
- pymdownx.critic | ||
- pymdownx.caret | ||
- pymdownx.details | ||
- pymdownx.keys | ||
- pymdownx.magiclink: | ||
hide_protocol: true | ||
- pymdownx.mark | ||
- pymdownx.tilde | ||
- pymdownx.saneheaders | ||
- pymdownx.superfences: | ||
custom_fences: | ||
- name: mermaid | ||
class: mermaid | ||
format: !!python/name:mermaid2.fence_mermaid | ||
- pymdownx.tabbed: | ||
alternate_style: true | ||
- pymdownx.tasklist: | ||
custom_checkbox: true | ||
- tables | ||
- mdx_gh_links: | ||
user: hCNV | ||
repo: hcnv.github.io | ||
- pymdownx.emoji: | ||
emoji_index: !!python/name:materialx.emoji.twemoji | ||
emoji_generator: !!python/name:materialx.emoji.to_svg | ||
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############################################################################### | ||
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theme: | ||
name: material | ||
plugins: | ||
- search | ||
- macros |