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variant normalization text
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mbaudis committed Mar 19, 2024
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13 changes: 12 additions & 1 deletion docs/genomic-coordinates-mappings.md
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## Variant normalization

==TBD==
The Beacon v2 specification does not define which style of variant normalization
sequence defined queries are based on. In practice usually the VCF model is assumed
(parsimony with avoidance of empty alleles). However, the GA4GH VRS specification
argues against this practice and recommends a fully justified normalization[^2].

!!! bug "Beacon Scouts To Do"

The Beacon Variant Scouts team will work on documenting a recommended variant
normalization format which might deviate from current practices.




[^1]: Source: [@andrewyatz](https://github.com/@andrewyatz/) at [GenomeStandards](https://genomestandards.org/standards/genome-coordinates/)
[^2]: VRS normalization rules as design decision: [Alleles are Fully Justified](https://vrs.ga4gh.org/en/latest/appendices/design_decisions.html#alleles-are-fully-justified)
6 changes: 5 additions & 1 deletion docs/query-solutions.md
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* GET vs. POST examples
-->

!!! bug "Beacon Scouts To Do"

Please extend the examples...


## Any deletion(s) involving the TP53 gene locus

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

==TBD==
5 changes: 5 additions & 0 deletions docs/terms-and-values.md
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Expand Up @@ -12,4 +12,9 @@ The main examples relevant to variation queries here are `referenceName` and
to promote flexibility (e.g. non-human use cases) and simple adoption (e.g. reusing
VCF terms).

!!! bug "Beacon Scouts To Do"

We will add and document recommended termionologies and use case examples during
the _2024 Beacon Variation Scouts_ process.

==TBD==
6 changes: 6 additions & 0 deletions docs/variant-types.md
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For a start please see the previous [Beacon Scouts: Genomic Variants Use Cases & Examples](https://docs.google.com/document/d/1cwwRQ2PtlN1dBffCugdkbSHWCPmLgLkADd-5mu-rVAw/edit).

!!! bug "Beacon Scouts To Do"

We will add and document the variation concepts during the 2024 Beacon Variation
Scouts process.


## Implemented

### Allelic Sequence Variations
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4 changes: 3 additions & 1 deletion mkdocs.yml → mkdocs.yaml
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logo: img/GA-logo.png
favicon: img/ga4gh_circle.ico
icon:
repo: fontawesome/brands/github-alt
repo: fontawesome/brands/github-alt
admonition:
bug: fontawesome/regular/hourglass-half
features:
- content.tabs.link
- search.highlight
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