Why do schizophrenia GWAS signals look so flat across the genome?
In our recent preprint, we explored why psychiatric disorders — and, more broadly, brain-related traits involving the central nervous system — appear to have unusual genetic architectures.
🧵1/n
Faculty position at the department of medicine, University of Chicago. Please share.
Great perspective by @philipcball.bsky.social.
Elementary genetics teaching (HS/college) focuses on Mendelian traits (single gene => single trait). However, it is now clear that polygenicity and pleiotropy are the norm. Curriculum must change accordingly.
www.sciencedirect.com/science/arti...
Accounting for recurrent mutation in the frequency spectrum of rare alleles https://www.biorxiv.org/content/10.64898/2026.05.29.728884v1
How do GWAS and rare variant burden tests rank gene signals?
In new work @nature.com with @hakha.bsky.social, @jkpritch.bsky.social, and our wonderful coauthors we find that the key factors are what we call Specificity, Length, and Luck!
🧬🧪🧵
www.nature.com/articles/s41...
Yesterday our article was featured on the cover of Nature. I'm incredibly proud of this team, led primarily by Latin Americans, & the result of the decade-long work by @hunemeier.bsky.social & lab. Kudos to the 1st authors too (incl @macscastro.bsky.social here on 🟦☁️)
www.nature.com/nature/volum...