Methods and applications for single-cell and spatial multi-omics

K Vandereyken, A Sifrim, B Thienpont… - Nature Reviews Genetics, 2023 - nature.com
The joint analysis of the genome, epigenome, transcriptome, proteome and/or metabolome
from single cells is transforming our understanding of cell biology in health and disease. In …

[HTML][HTML] Hallmarks of aging: An expanding universe

C López-Otín, MA Blasco, L Partridge, M Serrano… - Cell, 2023 - cell.com
Aging is driven by hallmarks fulfilling the following three premises:(1) their age-associated
manifestation,(2) the acceleration of aging by experimentally accentuating them, and (3) the …

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 …

Neuronal DNA double-strand breaks lead to genome structural variations and 3D genome disruption in neurodegeneration

V Dileep, CA Boix, H Mathys, A Marco, GM Welch… - Cell, 2023 - cell.com
Persistent DNA double-strand breaks (DSBs) in neurons are an early pathological hallmark
of neurodegenerative diseases including Alzheimer's disease (AD), with the potential to …

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 …

[HTML][HTML] Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elements

LJ Luquette, MB Miller, Z Zhou, CL Bohrson, Y Zhao… - Nature …, 2022 - nature.com
Accurate somatic mutation detection from single-cell DNA sequencing is challenging due to
amplification-related artifacts. To reduce this artifact burden, an improved amplification …

A guide to systems-level immunomics

L Bonaguro, J Schulte-Schrepping, T Ulas… - Nature …, 2022 - nature.com
The immune system is highly complex and distributed throughout an organism, with
hundreds to thousands of cell states existing in parallel with diverse molecular pathways …

Single-nucleus RNA-sequencing of autosomal dominant Alzheimer disease and risk variant carriers

L Brase, SF You, R D'Oliveira Albanus… - Nature …, 2023 - nature.com
Genetic studies of Alzheimer disease (AD) have prioritized variants in genes related to the
amyloid cascade, lipid metabolism, and neuroimmune modulation. However, the cell …

[HTML][HTML] Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy

KE Miller, AC Rivaldi, N Shinagawa, S Sran… - Nature …, 2023 - nature.com
Somatic mosaicism is a known cause of neurological disorders, including developmental
brain malformations and epilepsy. Brain mosaicism is traditionally attributed to post-zygotic …

Multiple system atrophy: pathology, pathogenesis, and path forward

A Ndayisaba, GM Halliday… - Annual Review of …, 2024 - annualreviews.org
Multiple system atrophy (MSA) is a fatal neurodegenerative disease characterized by
autonomic failure and motor impairment. The hallmark pathologic finding in MSA is …