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Nik Baya

@nbaya.bsky.social
80 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
BRaVa is led by @astheeggeggs.bsky.social , @konradjk.bsky.social , @ceclindgren.bsky.social and Benjamin Neale from @ox.ac.uk and @broadinstitute.org with co-authors from around the world. Thank you to all the biobank participants who make this research possible!
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Nik Baya @nbaya.bsky.social · 19/08/2026
Future partners include: ALSPAC, China Kadoorie, DanRaV, deCODE genetics, Qatar Genome, and Viking Genes. 🇨🇳🇩🇰🇮🇸🇶🇦🏴󠁧󠁢󠁳󠁣󠁴󠁿
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Nik Baya @nbaya.bsky.social · 19/08/2026
Our flagship release includes meta-analysed data from: @ukbiobank.ac.uk , All of Us, CCPM, @genomicsengland.bsky.social , @genesandhealth.bsky.social , @mgbresearch.bsky.social , @pennmedicine.bsky.social , BioMe, BioBank Japan, and the Estonian Biobank. 🇬🇧🇺🇸🇯🇵🇪🇪 Preprint: doi.org/10.64898/202...
doi.org
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Nik Baya @nbaya.bsky.social · 19/08/2026
Browser features: 🔍 Search by gene or trait 📏 Trait view - Ancestry by biobank. Interactive Manhattan plots. 📊 Gene view - PheWAS +ancestry-specific forest plots. Variant-level Manhattan plot. 👥 Filter by ancestry, variant consequence, etc. ⬇️ Download results instantly 📲 Use on mobile!
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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 · 12/01/2026
Excellent question! We briefly looked into singleton burden causing deviation from PGS for schizophrenia and bipolar disorder. The signal wasn't quite as robust, but perhaps an opportunity for future work!
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Nik Baya @nbaya.bsky.social · 12/01/2026
Thanks for sharing our preprint! :) For those curious, here's our graphical abstract
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Nik Baya @nbaya.bsky.social · 06/01/2026
Thank you to senior authors @astheeggeggs.bsky.social and @ceclindgren.bsky.social , and my co-authors Frederik Lassen, @barneyhill.bsky.social , @samvidav.bsky.social, @hannahcurrant.bsky.social !
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Nik Baya @nbaya.bsky.social · 06/01/2026
We also performed an exome-wide scan for novel genes associated with misalignment... ♀️Age at Menopause: We identified KANK1 as a gene associated with later-than-expected age at menopause, suggesting a potential protective role against primary ovarian insufficiency.
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Nik Baya @nbaya.bsky.social · 06/01/2026
We found "misaligned" individuals are enriched for rare variants: 🦴 Bone Density: Low misaligned enriched for pLoF in COPB2 & GORAB. 🩸 T2D: Cases with rare HNF1A/HNF4A variants had significantly lower polygenic risk. 🫀 CAD: Controls with protective ANGPTL3 variants had higher polygenic risk.
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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
This research was made possible through funding from @wellcometrust.bsky.social, the Clarendon Scholarship, and the Oxford-Bendich scholarship from @pembrokeoxford.bsky.social
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Nik Baya @nbaya.bsky.social · 04/09/2025
Thanks to co-authors İlknur Sur Erdem (co-first), @samvidav.bsky.social, Saskia Reibe, Philip Charles, Elena Navarro Guerrero, @barneyhill.bsky.social, Frederik Heymann Lassen, Melina Claussnitzer, and senior authors @astheeggeggs.bsky.social and @ceclindgren.bsky.social for their contributions!
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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
And thank you to @wellcometrust.bsky.social, Clarendon Scholars' Association, and @pembrokeoxford.bsky.social for funding my DPhil!
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Nik Baya @nbaya.bsky.social · 26/05/2025
Grateful as always to my co-authors @samvidav.bsky.social, Frederik Heymann Lassen, @hannahcurrant.bsky.social and mentors @astheeggeggs.bsky.social, @ceclindgren.bsky.social for their support!
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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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