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css, another example...
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mbaudis committed Mar 18, 2024
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59 changes: 59 additions & 0 deletions docs/css/theme_overrides.css
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@@ -0,0 +1,59 @@
:root {
--md-accent-fg-color: #076d63;
}

.md-grid {
max-width: 1200px;
}

.md-header__source {
background-image: url("/img/elixir-white-48x36.png");
background-repeat: no-repeat;
background-position: right;
}

div.figcaption {
text-align: justify;
line-height: 1.2em;
font-size: 0.8em;
margin: 0 30px 18px 30px;
}

.md-typeset h1 {
line-height: 1.2em;
margin: 0 0 24px 0;
}

.md-typeset ul li {
line-height: 1.4em;
margin-bottom: 0.2em;
}


h2 {
color: var(--md-accent-fg-color);
border-top: var(--md-accent-fg-color) thin solid;
border-bottom: var(--md-accent-fg-color) thin solid;
}

div.tabbed-set {
background-color: #fafafa;
}

.tabbed-content {
padding: 5px;
}

li li {
list-style-type: circle;
}

li li li {
list-style-type: "–";
font-size: 0.9em;
}

.mermaid {
display: flex;
justify-content: center;
}
6 changes: 4 additions & 2 deletions docs/index.md
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Expand Up @@ -15,8 +15,10 @@ The outcome of this scout would be a document summarising points 1-3, and buildi

## Material & References

* Beacon v2 [Variant Queries documenattion](http://docs.genomebeacons.org/variant-queries/#genomic-variant-queries)
* Beacon v2 [Variant Queries documentation](http://docs.genomebeacons.org/variant-queries/#genomic-variant-queries)
* Previous [Beacon Scouts: Genomic Variants Use Cases & Examples](https://docs.google.com/document/d/1cwwRQ2PtlN1dBffCugdkbSHWCPmLgLkADd-5mu-rVAw/edit)
* [VRS data model](https://vrs.ga4gh.org/en/latest/terms_and_model.html)

* ELIXIR hCNV [CNV type comparison matrix](https://cnvar.org/resources/CNV-annotation-standards/)
* Experimental Factor Ontology [CNVs](https://www.ebi.ac.uk/ols4/ontologies/efo/classes/http%253A%252F%252Fwww.ebi.ac.uk%252Fefo%252FEFO_0030066?lang=en)
* Sequence Ontology [sequence_variant]](http://sequenceontology.org/browser/current_release/term/SO:0001060)
* Sequence Ontology [sequence_variant](http://sequenceontology.org/browser/current_release/term/SO:0001060)
19 changes: 19 additions & 0 deletions docs/use-case-examples.md
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Expand Up @@ -29,4 +29,23 @@ For the interpretation of the "deletion" parameter see above.

--------------------------------------------------------------------------------

## Copy number gains involving the whole locus (chr2:54,700,000-63,900,000)

The query has to indicate the involved genomic region by positions as well as the
type of change. Here, matched duplication events start 5\` of the region and end 3\`
of it.

Besides the positions, this requires knowledge about the maximum value of the
reference base (or use of a very large one exceeding chromosome size; this example
here uses an "2nd end position equal to chr2 + 1" value).

While the example uses `SO:0001742` for `copy_number_gain` the EFO term use
(`EFO:0030070`: `copy number gain`) should be preferred since the EFO terms provide
a more granular expressivity and are referenced in the [VRS definitions](https://vrs.ga4gh.org/en/latest/terms_and_model.html#systemic-variation).

```
?referenceName=refseq:NC_000002.12&start=0,54700000&end=63900000,242193529&variantType=SO:0001742
```

--------------------------------------------------------------------------------
==TBD==
4 changes: 3 additions & 1 deletion mkdocs.yml
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Expand Up @@ -17,7 +17,9 @@ nav:
- Use Cases: use-case-examples
- Query Schema Source Files: https://github.com/ga4gh-beacon/variant-query-types/tree/main/schemas

###############################################################################
#<--------------------------- / Navigation ----------------------------------->#

extra_css: [css/theme_overrides.css]

markdown_extensions:
- toc:
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