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sex, again
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mbaudis committed Jun 19, 2024
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22 changes: 22 additions & 0 deletions docs/changelog.md
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Expand Up @@ -4,6 +4,28 @@ This page lists changes for the [Beacon+](http://beacon.progenetix.org/ui/)
implementation of the ["Beacon" genomics API](http://beacon-project.io), as well
as related updates for the [Progenetix](http://progenetix.org) front-end.

## 2024-06-18 Switching ontology use for `individual.sex`

While we had previously used the PATO terms for `genotypic sex` (PATO:0020001
or PATO:0020002) we have now recoded those to `"NCIT:C16576": "female" and "NCIT:C20197": "male"`
to stay in line with the Beacon v2 documentation examples (which will probably drive implementations).

```
sex:
label: Genotypic Sex
infoText: |
Genotypic sex of the individual.
defaultValue: ""
isHidden: true
options:
- value: ""
label: "(no selection)"
- value: NCIT:C16576
label: female
- value: NCIT:C20197
label: male
```

## 2024-02-24 Adding `analysis_operation` to `analyses`

This new parameter with its (so far) values
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4 changes: 2 additions & 2 deletions docs/common/beacon-api.md
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Expand Up @@ -163,8 +163,8 @@ The root path provides the standard `BeaconInfoResponse`.
* [/individuals/?filters=NCIT:C7541]({{config.api_web_root}}/beacon/individuals/?filters=NCIT:C7541)
- this example retrieves all individuals having an annotation associated with _NCIT:C7541_ (retinoblastoma)
- in Progenetix, this particular code will be part of the annotation for the _biosample(s)_ associated with the returned individual
* [/individuals/?filters=PATO:0020001,NCIT:C9291]({{config.api_web_root}}/beacon/individuals/?filters=PATO:0020001,NCIT:C9291)
- this query returns information about individuals with an anal carcinoma (**NCIT:C9291**) and a known male genotypic sex (**PATO:0020001**)
* [/individuals/?filters=NCIT:C20197,NCIT:C9291]({{config.api_web_root}}/beacon/individuals/?filters=NCIT:C20197,NCIT:C9291)
- this query returns information about individuals with an anal carcinoma (**NCIT:C9291**) and a known male genotypic sex (**NCIT:C20197**)
- in Progenetix, the information about its sex is associated with the _Individual_ object
(stored in _individuals_), whereas the cancer type is a property of the _Biosample_.
However, cross entity queries are supported through full aggregation across the different entities.
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