Georgios (Yiorgos) Kalantzis

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'

📣 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

31.07.2025 16:12 — 👍 43    🔁 43    💬 1    📌 3

🚨 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!👇👇

16.07.2025 12:57 — 👍 7    🔁 4    💬 1    📌 0

New preprint - collab with the groups of @mehurles.bsky.social and @dr-appie.bsky.social. We imputed missing fluid intelligence test scores into ~170k @ukbiobank.bsky.social indivs & showed how this reduces bias and increases power for rare+common variant analyses. www.medrxiv.org/content/10.1...

21.06.2025 08:58 — 👍 20    🔁 7    💬 1    📌 0


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!

12.06.2025 10:32 — 👍 2    🔁 0    💬 0    📌 0

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

12.06.2025 10:32 — 👍 1    🔁 0    💬 1    📌 0

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.

12.06.2025 10:32 — 👍 0    🔁 0    💬 1    📌 0

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.

12.06.2025 10:32 — 👍 3    🔁 0    💬 1    📌 0

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity Genes and Health (G&H) is a biomedical study of adult British-Pakistani and -Bangladeshi research volunteers enriched for autozygosity. We performed whole exome sequencing in 44,028 G&H participants, ...

Preprint alert! 🚨
doi.org/10.1101/2025...

Our manuscript on Exome sequencing and analysis of 44,028 British South Asians, using @genesandhealth.bsky.social is now available at @medrxivpreprint.bsky.social!

We present several great results, and I’m thrilled to highlight the pieces I worked on:

12.06.2025 10:32 — 👍 17    🔁 5    💬 1    📌 3