Toward a foundation model of causal cell and tissue biology with a Perturbation Cell and Tissue Atlas

JE Rood, A Hupalowska, A Regev - Cell, 2024 - cell.com
Comprehensively charting the biologically causal circuits that govern the phenotypic space
of human cells has often been viewed as an insurmountable challenge. However, in the last …

Deciphering the impact of genomic variation on function

Code of Conduct Committee (alphabetical by last name … - Nature, 2024 - nature.com
Our genomes influence nearly every aspect of human biology—from molecular and cellular
functions to phenotypes in health and disease. Studying the differences in DNA sequence …

Identifying genetic variants that influence the abundance of cell states in single-cell data

L Rumker, S Sakaue, Y Reshef, JB Kang, S Yazar… - Nature Genetics, 2024 - nature.com
Disease risk alleles influence the composition of cells present in the body, but modeling
genetic effects on the cell states revealed by single-cell profiling is difficult because variant …

Robust differential expression testing for single-cell CRISPR screens at low multiplicity of infection

T Barry, K Mason, K Roeder, E Katsevich - Genome Biology, 2024 - Springer
Single-cell CRISPR screens (perturb-seq) link genetic perturbations to phenotypic changes
in individual cells. The most fundamental task in perturb-seq analysis is to test for …

Modeling gene interactions in polygenic prediction via geometric deep learning

H Li, J Zeng, MP Snyder, S Zhang - Genome Research, 2025 - genome.cshlp.org
Polygenic risk score (PRS) is a widely used approach for predicting individuals' genetic risk
of complex diseases, playing a pivotal role in advancing precision medicine. Traditional …

MorPhiC Consortium: towards functional characterization of all human genes

M Adli, L Przybyla, T Burdett, PW Burridge, P Cacheiro… - Nature, 2025 - nature.com
Recent advances in functional genomics and human cellular models have substantially
enhanced our understanding of the structure and regulation of the human genome …

TLNRD1 is a CCM complex component and regulates endothelial barrier integrity

NJ Ball, S Ghimire, G Follain, AO Pajari… - Journal of Cell …, 2024 - rupress.org
We previously identified talin rod domain-containing protein 1 (TLNRD1) as a potent actin-
bundling protein in vitro. Here, we report that TLNRD1 is expressed in the vasculature in …

Galactin-8 DNA methylation mediates macrophage autophagy through the MAPK/mTOR pathway to alleviate atherosclerosis

B **a, Y Lu, J Peng, J Liang, F Li, J Ding, C Wan… - Scientific Reports, 2025 - nature.com
DNA methylation modifications are an important mechanism affecting the process of
atherosclerosis (AS). Previous studies have shown that Galectin-8 (GAL8) DNA methylation …

Clinical and Genomic Prediction of Coronary Artery Disease Subtypes

L Liou, J García-González, HM Wu… - … and Vascular Biology, 2025 - ahajournals.org
BACKGROUND: Coronary artery disease (CAD) is a complex, heterogeneous disease with
distinct etiological mechanisms. These different etiologies may give rise to multiple subtypes …

Massively parallel approaches for characterizing noncoding functional variation in human evolution

S Rong, E Root, SK Reilly - Current Opinion in Genetics & Development, 2024 - Elsevier
Highlights●Human evolution/adaptation is substantially driven by noncoding, regulatory
changes.●Novel high-throughput methods can characterize the function of evolutionarily …