From e88e94a6a287b07abfd26ef29b1f364ef600b98a Mon Sep 17 00:00:00 2001 From: Michael Baudis <675030+mbaudis@users.noreply.github.com> Date: Mon, 18 Mar 2024 14:09:29 +0100 Subject: [PATCH] css, another example... --- docs/css/theme_overrides.css | 59 ++++++++++++++++++++++++++++++++++++ docs/index.md | 6 ++-- docs/use-case-examples.md | 19 ++++++++++++ mkdocs.yml | 4 ++- 4 files changed, 85 insertions(+), 3 deletions(-) create mode 100644 docs/css/theme_overrides.css diff --git a/docs/css/theme_overrides.css b/docs/css/theme_overrides.css new file mode 100644 index 0000000..a31b897 --- /dev/null +++ b/docs/css/theme_overrides.css @@ -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; +} diff --git a/docs/index.md b/docs/index.md index 7bf6204..1e8342c 100644 --- a/docs/index.md +++ b/docs/index.md @@ -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) \ No newline at end of file +* Sequence Ontology [sequence_variant](http://sequenceontology.org/browser/current_release/term/SO:0001060) \ No newline at end of file diff --git a/docs/use-case-examples.md b/docs/use-case-examples.md index ba6a0f6..8fd0e66 100644 --- a/docs/use-case-examples.md +++ b/docs/use-case-examples.md @@ -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== \ No newline at end of file diff --git a/mkdocs.yml b/mkdocs.yml index 6ca6548..691be7d 100644 --- a/mkdocs.yml +++ b/mkdocs.yml @@ -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: