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CBU

@CBUuniTo

Computational Biology Unit led by Prof. Paolo Provero Neurosciences Dept. at @unito Tweets are from lab members.

 Torino, Italy
proverolab.gitlab.io
Joined January 2022
  • Tweets302
  • Following151
  • Followers89
17Media
Photo by CBU (@CBUuniTo)Photo by CBU (@CBUuniTo)Photo by CBU (@CBUuniTo)Photo by CBU (@CBUuniTo)Photo by CBU (@CBUuniTo)Photo by CBU (@CBUuniTo)Photo by CBU (@CBUuniTo)Photo by CBU (@CBUuniTo)Photo by CBU (@CBUuniTo)Photo by CBU (@CBUuniTo)
New preprint out: Effects of introgressed Neanderthal alleles on present-day brain morphology! 🧬🧠 using 370 phenotypes derived from ~40k brain MRIs we found a textbook neanderthal-mediated GWAS hit at DAAM1, Neanderthal burden associations and more biorxiv.org/content/10.64898…
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This was a team effort spearheaded by our Roberta and Alessandro here at @unito together with @AdelineMorez, Luca Pagani from @DiBio_UniPD & @emiliahsc , big thanks to everyone✨
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New pre-print out! 🎉 With Mathilde + 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/10.1101/2025.11.21.6… ! #popgen #genomics
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Polygenic and developmental profiles of autism differ by age at diagnosis nature.com/articles/s41586-0…
Polygenic and developmental profiles of autism differ by age at diagnosis

Polygenic and developmental profiles of autism differ by age at diagnosis

Nature - A study of several longitudinal birth cohorts and cross-sectional cohorts finds only moderate overlap in genetic variants between autism that is diagnosed earlier and that diagnosed later,...

nature.com
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Multiancestry brain pQTL fine-mapping and integration with genome-wide association studies of 21 neurologic and psychiatric conditions nature.com/articles/s41588-0…
Multiancestry brain pQTL fine-mapping and integration with genome-wide association studies of 21...

Multiancestry brain pQTL fine-mapping and integration with genome-wide association studies of 21...

Nature Genetics - Multiancestry fine-mapping of brain protein quantitative trait loci coupled with Mendelian randomization analyses identifies protein–trait pairs consistent with causal...

nature.com
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biorxiv.org/content/10.1101/…
Machine Learning Models Based on Histological Images from Healthy Donors Identify ImageQTLs and...

Machine Learning Models Based on Histological Images from Healthy Donors Identify ImageQTLs and...

Histological images offer a wealth of data. Mining these data holds significant potential for enhancing disease diagnosis and prognosis, though challenges remain, especially in non-cancer contexts....

biorxiv.org
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Multiple overlapping binding sites determine transcription factor occupancy nature.com/articles/s41586-0…
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medrxiv.org/content/10.1101/…
Genetic regulation of cell type–specific chromatin accessibility shapes immune function and disease...

Genetic regulation of cell type–specific chromatin accessibility shapes immune function and disease...

Understanding how genetic variation influences gene regulation at the single-cell level is crucial for elucidating the mechanisms underlying complex diseases. However, limited large-scale single-cell...

medrxiv.org
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medrxiv.org/content/10.1101/…
Single-cell genetics identifies cell type-specific causal mechanisms in complex traits and diseases

Single-cell genetics identifies cell type-specific causal mechanisms in complex traits and diseases

Genome-wide association studies (GWAS) have been instrumental in uncovering the genetic basis of complex traits. When integrated with expression quantitative trait loci (eQTL) mapping, they can...

medrxiv.org
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Endogenous fine-mapping and prioritization of functional regulatory elements in complex genetic loci sciencedirect.com/science/ar…
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The Importance of Regulatory Network Structure for Complex Trait Heritability and Evolution academic.oup.com/mbe/article…
The Importance of Regulatory Network Structure for Complex Trait Heritability and Evolution

The Importance of Regulatory Network Structure for Complex Trait Heritability and Evolution

Abstract. Complex traits are determined by many loci—mostly regulatory elements—that, through combinatorial interactions, can affect multiple traits. Such

academic.oup.com
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Whole-genome sequencing of 490,640 UK Biobank participants nature.com/articles/s41586-0…
Whole-genome sequencing of 490,640 UK Biobank participants

Whole-genome sequencing of 490,640 UK Biobank participants

Nature - A study reports whole-genome sequences for 490,640 participants from the UK Biobank and combines these data with phenotypic data to provide new insights into the relationship between human...

nature.com
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biorxiv.org/content/10.1101/…
Regulatory network topology and the genetic architecture of gene expression

Regulatory network topology and the genetic architecture of gene expression

In human populations, most of the genetic variance in gene expression can be attributed to trans -acting expression quantitative trait loci (eQTLs) spread across the genome. However, in practice it...

biorxiv.org
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Single-cell eQTL mapping of human endogenous retroviruses reveals cell type-specific genetic regulation in autoimmune diseases nature.com/articles/s41467-0…
Single-cell eQTL mapping of human endogenous retroviruses reveals cell type-specific genetic...

Single-cell eQTL mapping of human endogenous retroviruses reveals cell type-specific genetic...

Nature Communications - Human endogenous retroviruses are abundant in the genome but poorly characterised. Here, the authors map their expression and genetic regulation in immune cells and identify...

nature.com
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Towards improved fine-mapping of candidate causal variants nature.com/articles/s41576-0…
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And more posters at #eshg today! Meet Daniela and Davide at P18.116C and P21.001C in the coming session, and Roberta at P21.022D later today!
Image from CBU (@CBUuniTo)
Image from CBU (@CBUuniTo)
Image from CBU (@CBUuniTo)
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Are you at #eshg2025 in Milan? Come and check out what we are up to! 3 posters from our group in the coming session: Camilla at P18.011.B, Irene at P18.016B and Ettore at P18.131B!
Image from CBU (@CBUuniTo)
Image from CBU (@CBUuniTo)
Image from CBU (@CBUuniTo)
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Our work on the molecular basis of the genetic correlation between BMI and brain morphology has now appeared in PLOS Genetics journals.plos.org/plosgeneti… Thanks to @DFusco17, @CamillaMarinel8, @MathildeAndr11, @LuciaTroiani, Martina Noè, and @FabrizioPi1139
Exploring the molecular basis of the genetic correlation between body mass index and brain morpho...

Exploring the molecular basis of the genetic correlation between body mass index and brain morpho...

Author summary Obesity is linked to many chronic diseases and its prevalence worldwide is increasing. Susceptibility to obesity is known to be due, to some degree, to genetic factors, and such...

journals.plos.org
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Genetically regulated eRNA expression predicts chromatin contact frequency and reveals genetic mechanisms at GWAS loci nature.com/articles/s41467-0…
Genetically regulated eRNA expression predicts chromatin contact frequency and reveals genetic...

Genetically regulated eRNA expression predicts chromatin contact frequency and reveals genetic...

Nature Communications - Here, the authors present trained models of genetically regulated enhancer RNA expression, finding that genetically regulated expression predicts chromatin contact frequency...

nature.com
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An atlas of single-cell eQTLs dissects autoimmune disease genes and identifies novel drug classes for treatment sciencedirect.com/science/ar…
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