Applications of single-cell RNA sequencing in drug discovery and development

B Van de Sande, JS Lee, E Mutasa-Gottgens… - Nature Reviews Drug …, 2023 - nature.com
Single-cell technologies, particularly single-cell RNA sequencing (scRNA-seq) methods,
together with associated computational tools and the growing availability of public data …

Characterizing cis-regulatory elements using single-cell epigenomics

S Preissl, KJ Gaulton, B Ren - Nature Reviews Genetics, 2023 - nature.com
Cell type-specific gene expression patterns and dynamics during development or in disease
are controlled by cis-regulatory elements (CREs), such as promoters and enhancers …

An integrated cell atlas of the lung in health and disease

L Sikkema, C Ramírez-Suástegui, DC Strobl… - Nature medicine, 2023 - nature.com
Single-cell technologies have transformed our understanding of human tissues. Yet, studies
typically capture only a limited number of donors and disagree on cell type definitions …

De novo detection of somatic mutations in high-throughput single-cell profiling data sets

F Muyas, CM Sauer, JE Valle-Inclán, R Li… - Nature …, 2024 - nature.com
Abstract Characterization of somatic mutations at single-cell resolution is essential to study
cancer evolution, clonal mosaicism and cell plasticity. Here, we describe SComatic, an …

Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

K Suzuki, K Hatzikotoulas, L Southam, HJ Taylor, X Yin… - Nature, 2024 - nature.com
Abstract Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse
pathophysiological processes, and molecular mechanisms that are often specific to cell …

Molecular and cellular evolution of the primate dorsolateral prefrontal cortex

S Ma, M Skarica, Q Li, C Xu, RD Risgaard… - Science, 2022 - science.org
The granular dorsolateral prefrontal cortex (dlPFC) is an evolutionary specialization of
primates that is centrally involved in cognition. We assessed more than 600,000 single …

A fast, scalable and versatile tool for analysis of single-cell omics data

K Zhang, NR Zemke, EJ Armand, B Ren - Nature methods, 2024 - nature.com
Single-cell omics technologies have revolutionized the study of gene regulation in complex
tissues. A major computational challenge in analyzing these datasets is to project the large …

Epigenetic regulation during cancer transitions across 11 tumour types

NV Terekhanova, A Karpova, WW Liang… - Nature, 2023 - nature.com
Chromatin accessibility is essential in regulating gene expression and cellular identity, and
alterations in accessibility have been implicated in driving cancer initiation, progression and …

A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants

J Choi, S Kim, J Kim, HY Son, SK Yoo, CU Kim… - Science …, 2023 - science.org
Underrepresentation of non-European (EUR) populations hinders growth of global precision
medicine. Resources such as imputation reference panels that match the study population …

Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue-mediated …

D Adlam, TE Berrandou, A Georges, CP Nelson… - Nature Genetics, 2023 - nature.com
Spontaneous coronary artery dissection (SCAD) is an understudied cause of myocardial
infarction primarily affecting women. It is not known to what extent SCAD is genetically …