Reposted by Georgios (Yiorgos) KalantzisNicky 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 14443
Reposted by Georgios (Yiorgos) KalantzisGWAS 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!👇👇 174
Reposted by Georgios (Yiorgos) KalantzisHilary Martin @hilarycmartin.bsky.social · 21/06/2025New 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...medrxiv.orgImputation of fluid intelligence scores reduces ascertainment bias and increases power for analyses of common and rare variantsStudying the genetics of intelligence can help us understand the neurobiology of cognitive function and the aetiology of rare neurodevelopmental conditions. The largest previous genetic studies of int... 1207
Georgios (Yiorgos) Kalantzis @yiorkala.bsky.social · 12/06/2025Preprint 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:doi.orgExome sequencing and analysis of 44,028 British South Asians enriched for high autozygosityGenes 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, ... 1175