Single-cell genomics meets human genetics

ASE Cuomo, A Nathan, S Raychaudhuri… - Nature Reviews …, 2023 - nature.com
Single-cell genomic technologies are revealing the cellular composition, identities and
states in tissues at unprecedented resolution. They have now scaled to the point that it is …

Single-cell eQTL models reveal dynamic T cell state dependence of disease loci

A Nathan, S Asgari, K Ishigaki, C Valencia, T Amariuta… - Nature, 2022 - nature.com
Non-coding genetic variants may cause disease by modulating gene expression. However,
identifying these expression quantitative trait loci (eQTLs) is complicated by differences in …

[HTML][HTML] Spatiotemporal single-cell analysis decodes cellular dynamics underlying different responses to immunotherapy in colorectal cancer

Y Chen, D Wang, Y Li, L Qi, W Si, Y Bo, X Chen, Z Ye… - Cancer Cell, 2024 - cell.com
Expanding the efficacy of immune checkpoint blockade (ICB) in colorectal cancer (CRC)
presses for a comprehensive understanding of treatment responsiveness. Here, we analyze …

Precise identification of cell states altered in disease using healthy single-cell references

E Dann, AM Cujba, AJ Oliver, KB Meyer… - Nature Genetics, 2023 - nature.com
Joint analysis of single-cell genomics data from diseased tissues and a healthy reference
can reveal altered cell states. We investigate whether integrated collections of data from …

Interferon subverts an AHR–JUN axis to promote CXCL13+ T cells in lupus

C Law, VS Wacleche, Y Cao, A Pillai, J Sowerby… - Nature, 2024 - nature.com
Systemic lupus erythematosus (SLE) is prototypical autoimmune disease driven by
pathological T cell–B cell interactions,. Expansion of T follicular helper (TFH) and T …

Macrophage heterogeneity in the single-cell era: facts and artifacts

DA Hume, SM Millard, AR Pettit - Blood, 2023 - ashpublications.org
In this spotlight, we review technical issues that compromise single-cell analysis of tissue
macrophages, including limited and unrepresentative yields, fragmentation and generation …

A concerted neuron–astrocyte program declines in ageing and schizophrenia

E Ling, J Nemesh, M Goldman, N Kamitaki, N Reed… - Nature, 2024 - nature.com
Human brains vary across people and over time; such variation is not yet understood in
cellular terms. Here we describe a relationship between people's cortical neurons and …

HiDDEN: a machine learning method for detection of disease-relevant populations in case-control single-cell transcriptomics data

A Goeva, MJ Dolan, J Luu, E Garcia, R Boiarsky… - Nature …, 2024 - nature.com
In case-control single-cell RNA-seq studies, sample-level labels are transferred onto
individual cells, labeling all case cells as affected, when in reality only a small fraction of …

CD200+ fibroblasts form a pro-resolving mesenchymal network in arthritis

S Rauber, H Mohammadian, C Schmidkonz… - Nature …, 2024 - nature.com
Fibroblasts are important regulators of inflammation, but whether fibroblasts change
phenotype during resolution of inflammation is not clear. Here we use positron emission …

The chromatin landscape of pathogenic transcriptional cell states in rheumatoid arthritis

K Weinand, S Sakaue, A Nathan, AH Jonsson… - Nature …, 2024 - nature.com
Synovial tissue inflammation is a hallmark of rheumatoid arthritis (RA). Recent work has
identified prominent pathogenic cell states in inflamed RA synovial tissue, such as T …