OT Genetics v8 — metrics and examples

[HelenaCornu]

I have some questions regarding the upcoming release —

Priority

• Is there an interesting sQTL that I could feature in the blog post?
• Can you give me some examples of new studies with summary statistics from GWAS Catalog that I can show?
• We have integrated the data from FinnGen R6, correct? What does that add to Genetics?

General stats update

We provided some general stats on OTG with v5. Would it be possible to get the latest numbers for this?

• # of genes
• # of variants
• # EFO IDs, across # therapeutic areas
• # of studies, of which # have fine-mapping
• # independent disease/trait-associated loci
• # of trait-trait colocalisation tests
• # unique genes with L2G score > 0.8

[xyg123]

(Will update as I go)

of genes

of variants

57,244 studies , of which 8,894 has full summary stats / finemapping. 6,344 trait EFOs, across 24? theraputic areas.

independent disease/trait-associated loci

3,842,564 trait/disease - molecular trait colocalisations. 3,912 Unique genes with L2G score >0.8

[ireneisdoomed]

Adding up to @xyg123's comment:

• # of genes: 19 599
• # of variants: 72 878 709
• # of top loci: 146 433
• # of trait/trait colocalisation tests: 3 243 242

[HelenaCornu]

Thanks both!