genomicsdoge.bsky.social @genomicsdoge.bsky.social · 29/01/2026Doesn’t happen every day that your name is on three posters side by side and Darth Vader shows up too. Festival of Genomics 2026 in London is fun :) #FOG2026 080
genomicsdoge.bsky.social @genomicsdoge.bsky.social · 24/10/2025Fantastic work, really interesting to see MC4R extend its role beyond apptetite. We’ve also found surprisingly frequent POMC risk and MC4R protective variants in the Estonian population; We’ll check if retrospective semaglutide data from the Estonian Biobank align with the tirzepatide findings :) 000
genomicsdoge.bsky.social @genomicsdoge.bsky.social · 16/10/20257/7 Take-home: even in well-studied European populations, there’s hidden biology waiting to be found. Using population-specific imputation panels lets you see uncommon and rare variants that global panels often miss. rdcu.be/eJ0ge #GWAS #genetics #obesity @natcomms.nature.comrdcu.beCharacterization of prevalent genetic variants in the Estonian Biobank body-mass index GWASNature Communications - Here the authors perform a genome wide association study of 204,747 Estonian Biobank participants revealing 214 BMI loci. Reported signals include ADGRL3, PTPRT, and a... 030
genomicsdoge.bsky.social @genomicsdoge.bsky.social · 16/10/20256/7 Also also: an intronic protective ADGRL3 variant, located near CTCF sites. ADGRL3 gene is better known for its role in neurodevelopment and ADHD and is for first time linked to BMI; it has intriguing possibly has ties to incretin biology (GIP). Worth a deeper functional look! 100
genomicsdoge.bsky.social @genomicsdoge.bsky.social · 16/10/20255/7 We also found a few noteworthy novel protective coding hits: PTPRT:p.Arg1384His associates with lower BMI and points to the leptin–melanocortin axis. As phosphatases are considered druggable, this could be a potential anti-obesity target to explore. 110
genomicsdoge.bsky.social @genomicsdoge.bsky.social · 16/10/20254/7 An almost identical variant has previously been found in labrador retrievers, which leads to increased food motivation and body weight (@stephenorahilly.bsky.social ). We can hypothesize that this variant leads to similar traits in humans as well. 120
genomicsdoge.bsky.social @genomicsdoge.bsky.social · 16/10/20253/7 Highlight: a stop-gain POMC variant (p.Glu206*) that truncates β-MSH & β-endorphin. And it's surprisingly common: >1,700 heterozygous carriers in Estonia (~0.85% of Estonian Biobank participants); likely tens of thousands across N/E Europe. 110
genomicsdoge.bsky.social @genomicsdoge.bsky.social · 16/10/20252/7 We used the youngest available adult BMI per person to amplify genetic signal (median age ~42, which is about 15–20 years younger than other similar biobank cohorts). Result: 214 genome-wide loci in EstBB, mostly neurological pathways, many known, plus some fresh ones. 110
genomicsdoge.bsky.social @genomicsdoge.bsky.social · 16/10/20251/7 New BMI GWAS out! Using Estonian Biobank (n=204,747) and replication in FinnGen, we show that even in Europe you can still find region-specific biology if you zoom into population-tailored sumstats. Big thanks to co-author @kanwalbatool.bsky.social :) 1179
genomicsdoge.bsky.social @genomicsdoge.bsky.social · 16/10/2025Ega jõua ka kõike kõikjal ja korraga :) 020
Reposted by @genomicsdoge.bsky.socialLili Milani @lilimilani.bsky.social · 07/04/2025Excited to share our recently published overview of the @estbiobank.bsky.social 🧬 We highlight the unique features of the biobank and the conducted scientific research it has enabled, including the many recall studies that have been carried out over the years! www.nature.com/articles/s41...nature.comThe Estonian Biobank’s journey from biobanking to personalized medicine - Nature CommunicationsLarge-scale biobanks have become a font of data that have led to discoveries across many fields of research. Here, the authors provide an overview of the Estonian Biobank, highlighting its value for r... 14514
