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Computational Biology Unit led by Prof. Paolo Provero Neurosciences Dept. at University of Turin. https://proverolab.gitlab.io/ Tweets are from lab members.
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New preprint out! We investigated the effects of introgressed #Neanderthal alleles on present-day #brain morphology using 370 phenotypes derived from ~40k brain MRIs. 🧬🧠 A textbook neanderthal-mediated GWAS hit at DAAM1, Neanderthal burden associations and more at doi.org/10.64898/202...
www.science.org/doi/10.1126/...
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Pervasive cis-regulatory co-option of a transposable element family reinforces cell identity across the mouse immune system www.biorxiv.org/content/10.6...
www.nature.com/articles/s41...
www.medrxiv.org/content/10.6...
www.biorxiv.org/content/10.6...
New pre-print out! 🎉 With @mathilde-andre.bsky.social + team we traced spatio-temporal shifts in genetically regulated #transcription across 10,000 years of Western Eurasia, fine-mapping regulatory features targeted by #selection! 👉 doi.org/10.1101/2025... ! #popgen #genomics
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doi.org
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Seeing one of my favorite projects replicated in another big biobank from another country is an excellent start of the year! Thank you @iakuznetsov.bsky.social and colleagues (@ukuvainik.bsky.social!) at @estbiobank.bsky.social! The original @nathumbehav.nature.com paper: rdcu.be/eX5ID Thread 👇🏾
CBU
5mo
Approaches combining genetic association and Perturb-seq data that link genetic variants to functional programs to traits are described.
www.nature.com
Here the authors perturb genes linked to schizophrenia risk in human neurons. They find that single perturbations share common downstream effects on gene networks, while joint perturbations result in ...
Causal modelling of gene effects from regulators to programs to traits - Nature
Functional implications of polygenic risk for schizophrenia in human neurons - Nature Communications
www.nature.com
Gene regulatory changes are considered major drivers of evolutionary innovations, including the cerebellum’s expansion during human evolution, yet they remain largely unexplored. In this study, we com...
www.science.org
The evolution of gene regulation in mammalian cerebellum development
Abdel Abdellaoui
doi.org
www.biorxiv.org
Human craniofacial morphology is a hallmark of our species' diversity and evolutionary history, shaped by adaptation, introgression, and global dispersal. Cranial globularization and chin emergence ar...
www.biorxiv.org
The craniofacial shape of modern humans embodies genomic signatures of evolution, diversity, and clinical conditions
Integrating perturbational screens, eQTL, and GWAS data identifies mediating genes for complex traits
Most current GWAS-eQTL approaches prioritize genes whose mediating effects on complex traits act through cis-regulation, while trans-acting genes remain largely underexplored. Recent perturbational sc...
www.medrxiv.org
This Perspective explores the co-evolution of transposable elements and KRAB zinc-finger proteins in relation to their integration into human gene regulatory networks, highlighting their potential eff...
www.nature.com
The role of KRAB zinc-finger proteins in expanding the domestication potential of transposable elements - Nature Genetics
Remember the famous UKB migration paper? We found that internal migration also shapes population structure in Estonia. Key patterns replicate within families. www.cell.com/iscience/ful...
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