Some individuals defy their polygenic score. One explanation for their deviation may be a burden of rare variants with large effect. To find out more, explore our ✨INTERACTIVE✨ graphic abstract here: nikbaya.github.io/phenotype_de... #Genetics #RareDisease #PolygenicScores #SciComm #DataViz

Excited to share our new preprint on gnomAD v4! We present the full analysis of 730,947 exomes — new constraint metrics, improved LoF annotation (LOFTEE-2), LLM-based literature curation, and a unified framework for gene discovery and rare disease diagnosis. www.medrxiv.org/content/10.6...

Integrating 730,947 exome sequences with clinical literature improves gene discovery

Accurate estimates of allele frequencies aid in genetic discovery, including rare disease diagnosis, common disease investigations, and population genetics. Here, we present the Genome Aggregation Dat...

medrxiv.org

Why do some individuals defy their polygenic score? In the largest study of its kind (402k UKB individuals; 7 continuous traits + 3 diseases), we asked: If your phenotype deviates from common-variant polygenic score prediction, what's driving that difference? www.medrxiv.org/content/10.6...

Read about our recent paper here: www.bdi.ox.ac.uk/news/first-d...

First direct evidence links gene to fat storage, hinting at new obesity therapies

A new study, involving researchers at the Big Data Institute, has shown for the first time that a little-known gene, SLTM, plays a direct role in how fat is stored inside human cells. While large popu...

bdi.ox.ac.uk

✨ NEW PUBLICATION ✨ We combined large-scale human genetics with CRISPR-Cas9 editing in fat cells to identify genes linked to fat accumulation. Check out the full study, now published in AJHG! www.cell.com/ajhg/fulltex...

Combining evidence from human genetic and functional screens to identify pathways altering obesity and fat distribution

Overall and tissue-specific fat accumulation are associated with altered risk of cardiometabolic disease and mortality. By combining exome-wide association analysis of traits related to obesity and fa...

cell.com

Check out this PhD opportunity to work with a great supervisor at Oxford! 🌟

Duncan Palmer@astheeggeggs.bsky.social · last yr.

Come join us! We have an exciting PhD opportunity in statistical genetics at the University of Oxford. More info here: bit.ly/biomedDPhil 🗓️ App deadline: June 30th 2025. Please share!

So excited to give a talk at #ESHG2025! ✨ I presented our work demonstrating that individuals whose phenotype deviates from genetic expectation are enriched for rare damaging variants. This has implications for: - Screening of rare disorders 🔎 - Target discovery 💊 - Improving trait prediction 📈