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dataset: DISEASES#66

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tristan-f-r wants to merge 102 commits into
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diseases-dataset
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dataset: DISEASES#66
tristan-f-r wants to merge 102 commits into
mainfrom
diseases-dataset

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@tristan-f-r tristan-f-r added dataset Mutating datasets in any way. blocked-by-other-pr For PRs that depend on other PRs. labels Mar 18, 2026
tristan-f-r and others added 2 commits March 18, 2026 16:54
Co-authored-by: Neha Talluri <78840540+ntalluri@users.noreply.github.com>
Comment thread datasets/diseases/README.md
@annaritz

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The committed change now includes using the full DISEASES datasets. We now have 121 disease datasets, though we could filter this (either by increasing the minimum number of high-confidence gold standard genes in the disease set, or by requiring a certain number of prize nodes).

@annaritz

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QUESTION: We currently don't require that the gold standard disease-gene pairs have ENSP IDs in the interactome (STRING); we do require this for the TIGA GWAS inputs. Should we also ensure that all genes are in STRINGDB in the gold standard, or is that caught in a downstream process?

We should be trimming the gold standard to be the ones in the interactome as well. I think there is code for that in #65.

Does that mean that the diseases code should be trimming, or does that happen elsewhere? That might change the new numbers, if we require at least 10 gold standard disease-gene pairs that appear in STRING.

There are 84972 high-confidence disease-gene pairs from the 643 diseases
```

(Note: if you use the filtered datasets, you end with 134 diseases with at least 10 high-confidence disease-gene pairs).

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The snakemake file only mentions 121 diseases

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There are 134 diseases that have at least 10 high-confidence disease-gene pairs from DISEASES. Some of these don't have enough TIGA evidence to be used - that's in the next step. At this point, there are 134 diseases that COULD be used.

diseases_path = Path(dir_path, "..")
(diseases_path / "processed").mkdir(exist_ok=True, parents=True)

OXO_URL = "https://www.ebi.ac.uk/spot/oxo/api/search?size=500"

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This site is down right now and so I can't run the code to process the diseases data. Is there a way to download this data and have a static version we use?

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I put in a help ticket and will wait to hear back. Once it's back up, we should retain a static version.

If it doesn't come back online, I will look up the original data sources (MONDO and EFO) and get cross-reference files from those databases.

ntalluri and others added 4 commits June 25, 2026 10:42
…hmarking into diseases-dataset

Merging neha's commits after running locally, before updating the OXO parsing code to rely on flat files rather than API calls.
@annaritz

annaritz commented Jul 1, 2026

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Using the OXO2 mapping files rather than the OXO API (which has been taken down) gave us three more diseases, bringing the total datasets in this collection to 124. However, the number of prize nodes and the number of gold standard nodes vary drastically, and I noticed that the largest disease is simply "Disease", the next largest is "Disease of the Nervous System", etc. I will explore the relationship between gold standard nodes and prize nodes to see if we should trim further.

As a reminder, we currently identify the diseases in the DISEASES database for which there are at least 10 high confidence disease-gene pairs (scoring a 4 or 5 out of 5 in the DISEASES database). Of those diseases, we retain any that have corresponding TIGA trait-gene scores (based on the SNP scores only; the experimental track is ignored in the DISEASES database to avoid circular reasoning).

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