Skip to content
Merged
Show file tree
Hide file tree
Changes from all commits
Commits
File filter

Filter by extension

Filter by extension

Conversations
Failed to load comments.
Loading
Jump to
Jump to file
Failed to load files.
Loading
Diff view
Diff view
8 changes: 6 additions & 2 deletions orchestration/Makefile
Original file line number Diff line number Diff line change
Expand Up @@ -73,7 +73,7 @@ build-dag-svgs: ## Generate visual representations of Airflow DAGs for documenta
datasources/gwas_catalog_data/gwas_catalog_sumstats_pics \
datasources/gwas_catalog_data/gwas_catalog_sumstats_susie_clumping \
datasources/gwas_catalog_data/gwas_catalog_sumstats_susie_finemapping \
datasources/gwas_catalog_data/gwas_catalog_top_hits \
datasources/gwas_catalog_data/gwas_catalog_top_hits/gwas_catalog_top_hits \
datasources/gwas_catalog_data/gwas_catalog_heritability_estimate \
datasources/gnomad_data/gnomad_ingestion \
datasources/ukb_ppp_eur_data/ukb_ppp_eur_finemapping \
Expand All @@ -100,9 +100,12 @@ upload-gwas-catalog-buckets-readme: ## Upload gwas_catalog readme to the bucket(
@gcloud storage rsync docs/datasources/gwas_catalog_data gs://gwas_catalog_inputs/docs
@gcloud storage rsync docs/datasources/gwas_catalog_data gs://gwas_catalog_sumstats_pics/docs
@gcloud storage rsync docs/datasources/gwas_catalog_data gs://gwas_catalog_sumstats_susie/docs
@gcloud storage rsync docs/datasources/gwas_catalog_data gs://gwas_catalog_top_hits/docs
@gcloud storage rsync docs/credible_set_qc gs://gwas_catalog_sumstats_susie/docs/credible_set_qc

GWAS_CATALOG_TOP_HITS_RUN ?= prod/20260828T165117
upload-gwas-catalog-top-hits-readme: ## Upload the gwas_catalog_top_hits readme to the run folder of its bucket
@gcloud storage rsync docs/datasources/gwas_catalog_data/gwas_catalog_top_hits gs://gwas_catalog_top_hits/$(GWAS_CATALOG_TOP_HITS_RUN)/docs

upload-gnomad-bucket-readme: ## Upload gnomad_data readme to the bucket
@gcloud storage rsync docs/datasources/gnomad_data gs://gnomad_data_2/docs

Expand All @@ -119,5 +122,6 @@ upload-decode-bucket-readme: ## Upload decode_data readme to the bucket(s)
update-bucket-docs: ## Upload all datasource readmes to their buckets
update-bucket-docs: upload-eqtl-catalogue-bucket-readme upload-ukb-ppp-bucket-readme \
upload-finngen-bucket-readme upload-gwas-catalog-buckets-readme \
upload-gwas-catalog-top-hits-readme \
upload-gnomad-bucket-readme upload-intervals-bucket-readme \
upload-finngen-meta-readme upload-decode-bucket-readme
42 changes: 7 additions & 35 deletions orchestration/docs/datasources/gwas_catalog_data/README.md
Original file line number Diff line number Diff line change
@@ -1,6 +1,6 @@
# GWAS Catalog data source

This document was updated on 2026-01-30.
This document was updated on 2026-10-26.

Data stored under 4 buckets:

Expand Down Expand Up @@ -249,39 +249,7 @@ The image in the `/images/gentropy/Dockerfile` is based on the [gentropy image](

## GWAS Catalog top hits

Bucket `gs://gwas_catalog_top_hits` contains:

```sh
gs://gwas_catalog_top_hits/credible_sets/
gs://gwas_catalog_top_hits/docs/
gs://gwas_catalog_top_hits/study_index/
gs://gwas_catalog_top_hits/study_locus_ld_clumped/
gs://gwas_catalog_top_hits/study_locus_window_based_clumped/
```

Data contained in the `top_hits` corresponds to the [GWAS Catalog top associations](https://www.ebi.ac.uk/gwas/docs/methods/criteria#:~:text=statistics%20here.-,Top%20associations,-We%20also%20report)

Data is produced by **gwas_catalog_top_hits DAG**. The dag configuration and topology can be found in `gwas_catalog_top_hits.yaml` file under the config directory.

DAG contains 3 steps:

![gwas_catalog_top_hits](gwas_catalog_top_hits.svg)

1. gwas_catalog_top_hits_ingestion
2. ld_based_clumping
3. pics

### gwas_catalog_top_hits_ingestion

The step runs on the dataproc cluster that is used to generate the [study_index dataset](https://opentargets.github.io/gentropy/python_api/datasets/study_index/) and perform [window_based_clumping](https://opentargets.github.io/gentropy/python_api/methods/clumping/) on top associations. The datasets are saved under `gs://gwas_catalog_top_hits/study_index/` and `gs://gwas_catalog_top_hits/study_locus_window_based_clumped/`.

### ld_based_clumping

The step that performs [ld_clumping](https://opentargets.github.io/gentropy/python_api/methods/clumping/) on the results from the previous step. The results from this step are saved under `gs://gwas_catalog_top_hits/study_locus_ld_clumped/`.

### pics

The step that performs [PICS finemapping](https://opentargets.github.io/gentropy/python_api/methods/pics/) based on the ld clumped study locus dataset to obtain the dataset containing credible sets. This dataset is stored under `gs://gwas_catalog_top_hits/credible_sets/`
Produced by the `gwas_catalog_top_hits` DAG into `gs://gwas_catalog_top_hits`, see [GWAS Catalog top hits](gwas_catalog_top_hits/README.md).

---

Expand Down Expand Up @@ -483,4 +451,8 @@ To adjust the parameters for google batch infrastructure refer to the `google_ba
- [chore: 2026/09 GWAS Catalog manual curation update](https://github.com/opentargets/issues/issues/4427)
- [chore: 2026/09 GCCA & GCCS pics run](https://github.com/opentargets/issues/issues/4430)
- [chore: 2026/09 GCSS susie and credible set qc run](https://github.com/opentargets/issues/issues/4429)
- [chore: 2026/09 GWAS Catalog heritability estimate](https://github.com/opentargets/issues/issues/4432)
- [chore: 2026/09 GWAS Catalog heritability estimate](https://github.com/opentargets/issues/issues/4432)

### 2026-10-26

- chore: move the top hits release (run of 2026-08-28) from the root of `gs://gwas_catalog_top_hits` to `gs://gwas_catalog_top_hits/prod/20260828T165117/` (`config/`, `docs/`, `output/`), and split its docs into [GWAS Catalog top hits](gwas_catalog_top_hits/README.md).

This file was deleted.

Loading
Loading