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Nik Baya

@nbaya.bsky.social
79 followers 78 following 20 posts

Postdoc in genetics at MGH and Broad Institute. Oxford PhD. Passionate about using data science to improve global public health.

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Reposted by Nik Baya
The American Journal of Human Genetics @ajhgnews.bsky.social · 25/09/2026
🥳Congratulations @nbaya.bsky.social & @itskatelawrence.bsky.social !!!
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Nik Baya @nbaya.bsky.social · 19/08/2026
Introducing the BRaVa results browser v1! 🎉 1.2M+ individuals across 10 global biobanks 44 heritable, disease-relevant traits (and counting) 419M gene- & variant-level association tests ➡️ nikbaya.github.io/brava_browser/
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Nik Baya @nbaya.bsky.social · 24/06/2026
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
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Reposted by Nik Baya
Konrad @konradjk.bsky.social · 26/03/2026
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...
medrxiv.org
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...
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Nik Baya @nbaya.bsky.social · 06/01/2026
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...
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Nik Baya @nbaya.bsky.social · 04/09/2025
Read about our recent paper here: www.bdi.ox.ac.uk/news/first-d...
bdi.ox.ac.uk
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...
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Nik Baya @nbaya.bsky.social · 04/09/2025
✨ 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...
cell.com
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...
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Nik Baya @nbaya.bsky.social · 09/06/2025
Check out this PhD opportunity to work with a great supervisor at Oxford! 🌟
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Nik Baya @nbaya.bsky.social · 26/05/2025
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 📈
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