Investigating the evolutionary history of genetic variations to explain biological diversity and disease in modern and ancient human populations.

Buffalo
Joined June 2025
Gokcumen Lab retweeted
False positives abound in trans-eQTL discovery. The authors of @AJHGNews' latest article develop a method to identify the mapping artifacts that produce spurious results: cell.com/ajhg/abstract/S0002… #ASHG @GokcumenLab #HumanGenetics
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New paper with @rajivmccoy @AJHGNews . Bottom line: Polymorphic gene duplications absent in the reference genome can produce spurious trans-eQTLs, and we propose a method to identify these false positives. authors.elsevier.com/c/1nWCh…
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News podcast: @Markusmicrobius (@KingstonUni) on the #hantavirus outbreak; Omer Gokcumen (@UBuffalo) on gene selection in indigenous Andeans; Marcus Michaelangeli (@Griffith_Uni) on salmon on cocaine; and Amy Williams (@UF) on new molecules on Mars thenakedscientists.com/podca…
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Our preprint, "Read mismapping from segmental duplications drives spurious trans associations," is out! We argue that RNA & DNA read mismapping can lead to false signals in QTLs, Hi-C, GWAS, and gene co-expression. And there is a way to identify them! biorxiv.org/content/10.1101/…
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NEW PAPER in GBE! Saliva is key for digestion, teeth, immunity & oral health, but how did saliva proteins evolve? We show that SCPP genes expressed in salivary glands evolved rapidly via duplications, losses, & regulatory shifts, esp. in primates, with signs of positive selection
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✨ one of the proudest achievements of my lab. Oldie but Goldie. we delineated the sex- and diet-dependent effects of an ancient deletion (>Neanderthal–human divergence) in the 3rd, highly conserved exon GHR (GHRd3). science.org/doi/10.1126/scia… #BioRenderForGrants #ScienceAdvances
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Great write-up by Technology Networks on our recent work on switch-like gene expression in humans. It is short, clear, and just a 4-min read. If transcriptomic variation interests you, please give it a look! Paper: nature.com/articles/s41467-0… Write-up: technologynetworks.com/genom…
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#UBuffalo researchers found nearly 500 human genes that act like light switches—either fully on or off! 💡🧬 Led by Omer Gokcumen, Alber Aqil & Naoki Masuda, the study uncovered genetic patterns linked to fertility, COVID-19, cancer & more. Read more: arts-sciences.buffalo.edu/ne…
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Our lab's latest paper, "Switch-like gene expression modulates disease risk," led by our PhD student @AlberAqil, was published in Nature Communications. A collaboration with Naoki Masuda. Paper: nature.com/articles/s41467-0… Press release: buffalo.edu/grad/news.host.h…
Our new study, "Switch-like gene expression modulates disease risk," is now out in Nature Communications: nature.com/articles/s41467-0… @GokcumenLab @UBBiology @UBCAS @UBuffalo I am summarizing our key findings in this thread (1/8)
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