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Update changelog.md
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mbaudis committed Feb 10, 2025
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Expand Up @@ -4,6 +4,39 @@ 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.

## 2025-02-10: Fix for bug in aggregation of `individuals.sex` values

Due to a bug in the hierarchy codes for the `individuals.sex.id` parameter since
switching from PATO to NCIT codes the aggregated data for "male" sex contained
**all** individuals with an annotated sex, _i.e._ both males and females.

Performed normalization steps:

1. fixing of the hierarchy, now reading as

```
NCIT:C27993 general qualifier 0 1
NCIT:C17998 unknown 1 2
NCIT:C20197 male 1 3
NCIT:C16576 female 1 4
```

2. reassignment of missing codes to `NCIT:C17998`

Commands run in the MongoDB backend:

```
db.individuals.updateMany({"sex.id":""},{$set:{"sex":{"id":"NCIT:C17998", "label":"unknown"}}})
db.individuals.updateMany({"sex.id":"PATO:0020000"},{$set:{"sex":{"id":"NCIT:C17998", "label":"unknown"}}})
```

3. reaggregation of the `individuals.sex` values (here for `progenetix`)

```
./housekeepers/collationsCreator.py -d progenetix --collationTypes NCITsex
./housekeepers/collationsFrequencymapsCreator.py -d progenetix --collationTypes NCITsex --limit 0
```

## 2024-11-02: Fix for missing TCGA analyses

During import of the TCGA non-CNV variants the "analysis" objects somehow got
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