[HTML][HTML] Impact of the Human Cell Atlas on medicine

JE Rood, A Maartens, A Hupalowska, SA Teichmann… - Nature medicine, 2022 - nature.com
Single-cell atlases promise to provide a 'missing link'between genes, diseases and
therapies. By identifying the specific cell types, states, programs and contexts where disease …

[HTML][HTML] Systemic lupus erythematosus pathogenesis: interferon and beyond

S Caielli, Z Wan, V Pascual - Annual review of immunology, 2023 - annualreviews.org
Autoreactive B cells and interferons are central players in systemic lupus erythematosus
(SLE) pathogenesis. The partial success of drugs targeting these pathways, however …

[HTML][HTML] Epigenomic dissection of Alzheimer's disease pinpoints causal variants and reveals epigenome erosion

X Xiong, BT James, CA Boix, YP Park, K Galani… - Cell, 2023 - cell.com
Recent work has identified dozens of non-coding loci for Alzheimer's disease (AD) risk, but
their mechanisms and AD transcriptional regulatory circuitry are poorly understood. Here …

UNC93B1 variants underlie TLR7-dependent autoimmunity

C Wolf, EL Lim, M Mokhtari, B Kind, A Odainic… - Science …, 2024 - science.org
UNC93B1 is critical for trafficking and function of nucleic acid–sensing Toll-like receptors
(TLRs) TLR3, TLR7, TLR8, and TLR9, which are essential for antiviral immunity. Overactive …

[HTML][HTML] 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 …

Molecular quantitative trait loci

F Aguet, K Alasoo, YI Li, A Battle, HK Im… - Nature Reviews …, 2023 - nature.com
Understanding functional effects of genetic variants is one of the key challenges in human
genetics, as much of disease-associated variation is located in non-coding regions with …

[HTML][HTML] Insights from multi-omics integration in complex disease primary tissues

P Kreitmaier, G Katsoula, E Zeggini - Trends in Genetics, 2023 - cell.com
Genome-wide association studies (GWAS) have provided insights into the genetic basis of
complex diseases. In the next step, integrative multi-omics approaches can characterize …

[HTML][HTML] Dissecting human population variation in single-cell responses to SARS-CoV-2

Y Aquino, A Bisiaux, Z Li, M O'Neill, J Mendoza-Revilla… - Nature, 2023 - nature.com
Humans display substantial interindividual clinical variability after SARS-CoV-2 infection,–,
the genetic and immunological basis of which has begun to be deciphered. However, the …

Modeling and analyzing single-cell multimodal data with deep parametric inference

H Hu, Z Feng, H Lin, J Zhao, Y Zhang… - Briefings in …, 2023 - academic.oup.com
The proliferation of single-cell multimodal sequencing technologies has enabled us to
understand cellular heterogeneity with multiple views, providing novel and actionable …

[HTML][HTML] Single-cell RNA-sequencing of peripheral blood mononuclear cells reveals widespread, context-specific gene expression regulation upon pathogenic …

R Oelen, DH de Vries, H Brugge, MG Gordon… - Nature …, 2022 - nature.com
The host's gene expression and gene regulatory response to pathogen exposure can be
influenced by a combination of the host's genetic background, the type of and exposure time …