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Update genomic-coordinates-mappings.md
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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 prescribe 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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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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