Methods and insights from single-cell expression quantitative trait loci

JB Kang, A Raveane, A Nathan… - Annual review of …, 2023 - annualreviews.org
Recent advancements in single-cell technologies have enabled expression quantitative trait
locus (eQTL) analysis across many individuals at single-cell resolution. Compared with bulk …

Data analysis guidelines for single-cell RNA-seq in biomedical studies and clinical applications

M Su, T Pan, QZ Chen, WW Zhou, Y Gong, G Xu… - Military Medical …, 2022 - Springer
The application of single-cell RNA sequencing (scRNA-seq) in biomedical research has
advanced our understanding of the pathogenesis of disease and provided valuable insights …

Cell type–specific genetic regulation of gene expression across human tissues

S Kim-Hellmuth, F Aguet, M Oliva, M Muñoz-Aguirre… - Science, 2020 - science.org
INTRODUCTION Efforts to map quantitative trait loci (QTLs) across human tissues by the
GTEx Consortium and others have identified expression and splicing QTLs (eQTLs and …

The single-cell eQTLGen consortium

MGP van der Wijst, DH de Vries, HE Groot, G Trynka… - elife, 2020 - elifesciences.org
In recent years, functional genomics approaches combining genetic information with bulk
RNA-sequencing data have identified the downstream expression effects of disease …

Multi-ancestry eQTL meta-analysis of human brain identifies candidate causal variants for brain-related traits

B Zeng, J Bendl, R Kosoy, JF Fullard, GE Hoffman… - Nature …, 2022 - nature.com
While large-scale, genome-wide association studies (GWAS) have identified hundreds of
loci associated with brain-related traits, identification of the variants, genes and molecular …

Consequences and opportunities arising due to sparser single-cell RNA-seq datasets

GA Bouland, A Mahfouz, MJT Reinders - Genome biology, 2023 - Springer
With the number of cells measured in single-cell RNA sequencing (scRNA-seq) datasets
increasing exponentially and concurrent increased sparsity due to more zero counts being …

scPower accelerates and optimizes the design of multi-sample single cell transcriptomic studies

KT Schmid, B Höllbacher, C Cruceanu… - Nature …, 2021 - nature.com
Single cell RNA-seq has revolutionized transcriptomics by providing cell type resolution for
differential gene expression and expression quantitative trait loci (eQTL) analyses. However …

Single-cell eQTL analysis of activated T cell subsets reveals activation and cell type–dependent effects of disease-risk variants

BJ Schmiedel, C Gonzalez-Colin, V Fajardo… - Science …, 2022 - science.org
The impact of genetic variants on cells challenged in biologically relevant contexts has not
been fully explored. Here, we activated CD4+ T cells from 89 healthy donors and performed …

Single-cell genomics meets human genetics

ASE Cuomo, A Nathan, S Raychaudhuri… - Nature Reviews …, 2023 - nature.com
Single-cell genomic technologies are revealing the cellular composition, identities and
states in tissues at unprecedented resolution. They have now scaled to the point that it is …

Pleiotropic roles of ABC transporters in breast cancer

J He, E Fortunati, DX Liu, Y Li - International Journal of Molecular …, 2021 - mdpi.com
Chemotherapeutics are the mainstay treatment for metastatic breast cancers. However, the
chemotherapeutic failure caused by multidrug resistance (MDR) remains a pivotal obstacle …