Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function

G Eraslan, E Drokhlyansky, S Anand, E Fiskin… - Science, 2022 - science.org
Understanding gene function and regulation in homeostasis and disease requires
knowledge of the cellular and tissue contexts in which genes are expressed. Here, we …

The Tabula Sapiens: A multiple-organ, single-cell transcriptomic atlas of humans

The Tabula Sapiens Consortium*, RC Jones… - Science, 2022 - science.org
Molecular characterization of cell types using single-cell transcriptome sequencing is
revolutionizing cell biology and enabling new insights into the physiology of human organs …

Understanding multicellular function and disease with human tissue-specific networks

CS Greene, A Krishnan, AK Wong, E Ricciotti… - Nature …, 2015 - nature.com
Tissue and cell-type identity lie at the core of human physiology and disease. Understanding
the genetic underpinnings of complex tissues and individual cell lineages is crucial for …

Interpreting non-coding disease-associated human variants using single-cell epigenomics

KJ Gaulton, S Preissl, B Ren - Nature Reviews Genetics, 2023 - nature.com
Genome-wide association studies (GWAS) have linked hundreds of thousands of sequence
variants in the human genome to common traits and diseases. However, translating this …

Complementing tissue characterization by integrating transcriptome profiling from the Human Protein Atlas and from the FANTOM5 consortium

NYL Yu, BM Hallström, L Fagerberg… - Nucleic acids …, 2015 - academic.oup.com
Understanding the normal state of human tissue transcriptome profiles is essential for
recognizing tissue disease states and identifying disease markers. Recently, the Human …

Mapping human cell phenotypes to genotypes with single-cell genomics

JG Camp, R Platt, B Treutlein - Science, 2019 - science.org
The cumulative activity of all of the body's cells, with their myriad interactions, life histories,
and environmental experiences, gives rise to a condition that is distinctly human and specific …

[HTML][HTML] Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics

KA Jagadeesh, KK Dey, DT Montoro, R Mohan… - Nature …, 2022 - nature.com
Genome-wide association studies provide a powerful means of identifying loci and genes
contributing to disease, but in many cases, the related cell types/states through which genes …

Integrative single-cell analysis of transcriptional and epigenetic states in the human adult brain

BB Lake, S Chen, BC Sos, J Fan, GE Kaeser… - Nature …, 2018 - nature.com
Detailed characterization of the cell types in the human brain requires scalable experimental
approaches to examine multiple aspects of the molecular state of individual cells, as well as …

[HTML][HTML] Nuclei multiplexing with barcoded antibodies for single-nucleus genomics

JT Gaublomme, B Li, C McCabe, A Knecht… - Nature …, 2019 - nature.com
Single-nucleus RNA-seq (snRNA-seq) enables the interrogation of cellular states in
complex tissues that are challenging to dissociate or are frozen, and opens the way to …

[PDF][PDF] Single nucleus multi-omics identifies human cortical cell regulatory genome diversity

C Luo, H Liu, F Xie, EJ Armand, K Siletti, TE Bakken… - Cell genomics, 2022 - cell.com
Single-cell technologies measure unique cellular signatures but are typically limited to a
single modality. Computational approaches allow the fusion of diverse single-cell data …