iiinova — where your digital self keeps evolving

Reposted by Georgios (Yiorgos) Kalantzis

Nicky Whiffin @nickywhiffin.bsky.social · 31/07/2025

📣 We are recruiting! Please share!! Are you a bioinformatician / computational scientist who wants to apply your skills to understanding regulatory biology and improving rare disease diagnosis and treatment? 🧠 💻 🧬 🩺 We have two roles available 👇 🧵 1/4

Image of an old building in Oxford with the heading 'postdoc opportunities' and the text 'computational approaches to improve rare disease diagnosis and treatment' and 'Big Data Institute, University of Oxford'

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Reposted by Georgios (Yiorgos) Kalantzis

GWAS Catalog @gwascatalog.bsky.social · 16/07/2025

🚨 IMPORTANT UPDATE 🚨 👩🏻‍💻👨🏻‍💻Work on #gwas? 📊Did you submit your #SumStats (bit.ly/38rNSjx) or are you planning to do so? Now you can ALSO submit the top associations to be included in the GWAS Catalog! Just follow the link in your submission confirmation email for more details!👇👇

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Georgios (Yiorgos) Kalantzis @yiorkala.bsky.social · 12/06/2025

 Grateful to all collaborators — @hilarycmartin.bsky.social @ericfauman.bsky.social @sarahfiner.bsky.social @astheeggeggs.bsky.social — and to the Genes & Health participants who made this possible. Please read our preprint for more details!

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Georgios (Yiorgos) Kalantzis @yiorkala.bsky.social · 12/06/2025

Joint additive/dominant model: For each of those 13 hits, we then assessed a 2-df model which revealed three associations - all novel - with strong recessive patterns – NLRP10 → Viral pneumonia risk – HSD17B14 → Bone density disorders – NCAPD2 → Vitamin B₁₂ levels

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Georgios (Yiorgos) Kalantzis @yiorkala.bsky.social · 12/06/2025

Recessive association scan (a recessive #GWAS), testing for 54 quantitative alongside 439 binary phenotypes derived from EHR. We identified 13 genome-wide significant associations (P < 2.9×10⁻⁷), highlighting both known and novel signals.

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Georgios (Yiorgos) Kalantzis @yiorkala.bsky.social · 12/06/2025

Statistical phasing & identification of compound-heterozygous genotypes that boosted the total number of rare (MAF < 5%) biallelic pLoF or damaging genotypes by 45%, to a total of 179,379.

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