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
May 2024
Gene expression levels can vary substantially across cells, even in a seemingly homogeneous cell population. Identifying the relationships between genetic variation and gene expression is critical for understanding the mechanisms of genome regulation. However, the genetic control of gene expression variability among th...
A. Xue, S. Yazar, José Alquicira-Hernández et al.
· bioRxiv · 1 citation
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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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