Open access
Oct 2026
Understanding how genetic variation shapes gene regulation at single-cell resolution is crucial for elucidating complex disease mechanisms1, but has been limited by the lack of large-scale single-cell multi-omics data2-4. Here we present single-cell assay for transposase-accessible chromatin with sequencing of 3.5 mill...
A. Xue, Jia-Nan Fan, Oscar A. Dong et al.
· Nature · 3 citations
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Open access
Oct 2026
Understanding the genetic basis of gene expression can shed light on the regulatory mechanisms underlying complex traits and diseases1,2. Single-cell-resolved measures of RNA levels and single-cell expression quantitative trait loci have revealed genetic regulation that drives cell states and types across diverse tissu...
Anna S. E. Cuomo, E. Spenceley, H. Tanudisastro et al.
· Nature · 3 citations
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Open access
Aug 2026
This study establishes large-scale adipocyte cell villages as a powerful and generalizable framework to map the context-dependent regulatory architecture of cardiometabolic disease and provides a resource linking human genetic variation to adipocyte cellular programs.
Yi Huang, Joaquin Perez-Schindler, Sanchari Datta et al.
· bioRxiv · 0 citations
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Open access
Aug 2026
The developed sc-pcQTL complements conventional single-gene eQTL analysis by identifying trait-relevant regulatory signals shared across neighboring genes and summarizes each cluster using principal components, and maps cis-pcQTLs.
Jun-Kai Zhang, Yi Huang, M. Claussnitzer et al.
· bioRxiv · 0 citations
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Open access
Aug 2026
In adipose-derived mesenchymal stem cells exposed to metabolic stimulations, CASTIE increased eGene discovery by 36-92% across cell populations and identified stimulation-dependent regulatory effects at metabolic trait loci, revealing disease-relevant regulatory variation beyond static eQTL mapping.
Yijia Christiana Liu, A. Cuomo, Yi Huang et al.
· medRxiv · 0 citations
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