Methods and applications for single-cell and spatial multi-omics
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 …
from single cells is transforming our understanding of cell biology in health and disease. In …
Computational principles and challenges in single-cell data integration
The development of single-cell multimodal assays provides a powerful tool for investigating
multiple dimensions of cellular heterogeneity, enabling new insights into development …
multiple dimensions of cellular heterogeneity, enabling new insights into development …
A compendium of uniformly processed human gene expression and splicing quantitative trait loci
N Kerimov, JD Hayhurst, K Peikova, JR Manning… - Nature …, 2021 - nature.com
Many gene expression quantitative trait locus (eQTL) studies have published their summary
statistics, which can be used to gain insight into complex human traits by downstream …
statistics, which can be used to gain insight into complex human traits by downstream …
Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function
Understanding gene function and regulation in homeostasis and disease requires
knowledge of the cellular and tissue contexts in which genes are expressed. Here, we …
knowledge of the cellular and tissue contexts in which genes are expressed. Here, we …
Single-cell eQTL models reveal dynamic T cell state dependence of disease loci
Non-coding genetic variants may cause disease by modulating gene expression. However,
identifying these expression quantitative trait loci (eQTLs) is complicated by differences in …
identifying these expression quantitative trait loci (eQTLs) is complicated by differences in …
From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases
Genome-wide association studies (GWAS) have successfully mapped thousands of loci
associated with complex traits. These associations could reveal the molecular mechanisms …
associated with complex traits. These associations could reveal the molecular mechanisms …
Brain Chimeroids reveal individual susceptibility to neurotoxic triggers
N Antón-Bolaños, I Faravelli, T Faits, S Andreadis… - Nature, 2024 - nature.com
Interindividual genetic variation affects the susceptibility to and progression of many
diseases,. However, efforts to study how individual human brains differ in normal …
diseases,. However, efforts to study how individual human brains differ in normal …
Principles and challenges of modeling temporal and spatial omics data
Studies with temporal or spatial resolution are crucial to understand the molecular dynamics
and spatial dependencies underlying a biological process or system. With advances in high …
and spatial dependencies underlying a biological process or system. With advances in high …
Where are the disease-associated eQTLs?
Most disease-associated variants, although located in putatively regulatory regions, do not
have detectable effects on gene expression. One explanation could be that we have not …
have detectable effects on gene expression. One explanation could be that we have not …
Human-specific genetics: new tools to explore the molecular and cellular basis of human evolution
Our ancestors acquired morphological, cognitive and metabolic modifications that enabled
humans to colonize diverse habitats, develop extraordinary technologies and reshape the …
humans to colonize diverse habitats, develop extraordinary technologies and reshape the …