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cbuunito.bsky.social
CBU
@cbuunito.bsky.social
37 followers 100 following 49 posts
Computational Biology Unit led by Prof. Paolo Provero
Neurosciences Dept. at University of Turin.
https://proverolab.gitlab.io/

Tweets are from lab members.
Posts Replies Media Videos
cbuunito.bsky.social
www.biorxiv.org/content/10.1...
Intraspecific sequence variation and complete genomes refine the identification of rapidly evolved regions in humans
Summary Humans exhibit significant phenotypic differences from other great apes, yet pinpointing the underlying genetic changes has been limited by incomplete reference genomes and a reliance on sing...
www.biorxiv.org
November 5, 2025 at 9:17 AM
cbuunito.bsky.social
journals.plos.org/plosbiology/...
Simple scaling laws control the genetic architectures of human complex traits
Genome-wide association studies have revealed that the genetic architectures of complex traits vary widely. This study shows that differences in architectures of highly polygenic traits arise mainly f...
journals.plos.org
November 4, 2025 at 1:34 PM
cbuunito.bsky.social
doi.org/10.1038/s415...
Nucleotide dependency analysis of genomic language models detects functional elements - Nature Genetics
Mapping pairwise nucleotide dependencies by leveraging genomic language models highlights functional genomic elements and predicts deleterious genetic variants more effectively than alignment-based co...
doi.org
October 20, 2025 at 12:45 PM
cbuunito.bsky.social
If you are at #ASHG2025 come look at two posters from our lab and beyond
October 17, 2025 at 5:52 PM
cbuunito.bsky.social
www.nature.com/articles/s41...
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, so they may represent aetiologically different conditions.
www.nature.com
October 11, 2025 at 6:17 AM
cbuunito.bsky.social
www.nature.com/articles/s41...
Multiancestry brain pQTL fine-mapping and integration with genome-wide association studies of 21 neurologic and psychiatric conditions - Nature Genetics
Multiancestry fine-mapping of brain protein quantitative trait loci coupled with Mendelian randomization analyses identifies protein–trait pairs consistent with causal effects across neurological and ...
www.nature.com
September 16, 2025 at 6:50 AM
cbuunito.bsky.social
www.biorxiv.org/content/10.1...
Machine Learning Models Based on Histological Images from Healthy Donors Identify ImageQTLs and Predict Chronological Age
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. In...
www.biorxiv.org
September 11, 2025 at 7:12 AM
cbuunito.bsky.social
www.nature.com/articles/s41...
Multiple overlapping binding sites determine transcription factor occupancy - Nature
A new method enables comprehensive screening and identification of low-affinity DNA binding sites for transcription factors, and reveals that nucleotides flanking high-affinity binding sites create ov...
www.nature.com
September 9, 2025 at 7:04 AM
cbuunito.bsky.social
www.medrxiv.org/content/10.1...
Genetic regulation of cell type–specific chromatin accessibility shapes immune function and disease risk
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 ...
www.medrxiv.org
September 7, 2025 at 6:07 AM
cbuunito.bsky.social
www.medrxiv.org/content/10.1...
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 elucid...
www.medrxiv.org
September 4, 2025 at 7:01 AM
cbuunito.bsky.social
www.sciencedirect.com/science/arti...
Endogenous fine-mapping and prioritization of functional regulatory elements in complex genetic loci
Most genetic loci linked to polygenic traits are in non-coding regions, with complex regulation and linkage disequilibrium (LD), complicating causal v…
www.sciencedirect.com
September 3, 2025 at 3:25 PM
Reposted by CBU
fervillanea.bsky.social
Our paper on the evolution of MUC19 in humans, Neanderthals, and Denisovans is finally out today in Science!

This has been a six-year effort by 13 authors to weave together 3 separate but related evolutionary stories around this one gene (more on thread 🧵).

www.science.org/doi/10.1126/...
The MUC19 gene: An evolutionary history of recurrent introgression and natural selection
We study the gene MUC19, for which some modern humans carry a Denisovan-like haplotype. MUC19 is a mucin, a glycoprotein that forms gels with various biological functions. We find diagnostic variants ...
www.science.org
August 21, 2025 at 7:36 PM
Reposted by CBU
shaicarmi.bsky.social
Nice review of polygenic prediction of traits based on ancient DNA, by @mathiesoniain.bsky.social

www.sciencedirect.com/science/arti...
Polygenic prediction of human complex traits using ancient DNA
Ancient DNA has revolutionized our understanding of human history and clarified many aspects of human evolution on a molecular level. In this article,…
www.sciencedirect.com
September 1, 2025 at 8:47 AM
cbuunito.bsky.social
academic.oup.com/mbe/article/...
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
August 27, 2025 at 6:21 AM
cbuunito.bsky.social
www.nature.com/articles/s41...
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 variation a...
www.nature.com
August 22, 2025 at 9:47 AM
cbuunito.bsky.social
www.biorxiv.org/content/10.1...
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 is...
www.biorxiv.org
August 21, 2025 at 10:01 AM
cbuunito.bsky.social
www.nature.com/articles/s41...
Single-cell eQTL mapping of human endogenous retroviruses reveals cell type-specific genetic regulation in autoimmune diseases - 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 disease-linked loci with p...
www.nature.com
August 17, 2025 at 6:49 AM
cbuunito.bsky.social
www.nature.com/articles/s41...
Towards improved fine-mapping of candidate causal variants - Nature Reviews Genetics
Fine-mapping aims to distinguish between the causal and non-causal genetic variants identified in genome-wide association studies of complex traits. In this Review, Li and Zhou cover the recent method...
www.nature.com
August 11, 2025 at 5:40 AM
cbuunito.bsky.social
And as promised more posters at #eshg2025 today! Meet Daniela and Davide at P18.116C and P21.001C in the coming session, and Roberta at P21.022D later today!
May 26, 2025 at 10:52 AM
cbuunito.bsky.social
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!
May 25, 2025 at 2:03 PM
cbuunito.bsky.social
Our work on the molecular basis of the genetic correlation between BMI and brain morphology has now appeared in PLOS Genetics

journals.plos.org/plosgenetics...

Thanks to @danifusco.bsky.social, Camilla Marinelli, @mathilde-andre.bsky.social, Lucia Troiani, Martina Noè, and Fabrizio Pizzagalli
Exploring the molecular basis of the genetic correlation between body mass index and brain morphological traits
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 genetic...
journals.plos.org
April 11, 2025 at 8:31 AM
cbuunito.bsky.social
www.nature.com/articles/s41...
Genetically regulated eRNA expression predicts chromatin contact frequency and reveals genetic mechanisms at GWAS loci - Nature Communications
Here, the authors present trained models of genetically regulated enhancer RNA expression, finding that genetically regulated expression predicts chromatin contact frequency and that enhancer RNAs pla...
www.nature.com
April 11, 2025 at 7:54 AM
cbuunito.bsky.social
www.sciencedirect.com/science/arti...
An atlas of single-cell eQTLs dissects autoimmune disease genes and identifies novel drug classes for treatment
Most variants identified from genome-wide association studies (GWASs) are non-coding and regulate gene expression. However, many risk loci fail to col…
www.sciencedirect.com
April 1, 2025 at 8:06 AM
cbuunito.bsky.social
www.biorxiv.org/content/10.1...
Benchmarking DNA Sequence Models for Causal Regulatory Variant Prediction in Human Genetics
www.biorxiv.org
March 14, 2025 at 7:30 AM
cbuunito.bsky.social
www.nature.com/articles/s41...
Plasma proteome variation and its genetic determinants in children and adolescents - Nature Genetics
This mass spectrometry-based proteomic study profiles the plasma proteome in 2,147 children and adolescents and reveals its association with age, sex, puberty, body mass index and genetics.
www.nature.com
February 24, 2025 at 7:52 AM