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 …
Macrophages in atherosclerosis regression
TJ Barrett - Arteriosclerosis, thrombosis, and vascular biology, 2020 - Am Heart Assoc
Macrophages play a central role in the development of atherosclerotic cardiovascular
disease (ASCVD), which encompasses coronary artery disease, peripheral artery disease …
disease (ASCVD), which encompasses coronary artery disease, peripheral artery disease …
Single-cell eQTL map** identifies cell type–specific genetic control of autoimmune disease
The human immune system displays substantial variation between individuals, leading to
differences in susceptibility to autoimmune disease. We present single-cell RNA sequencing …
differences in susceptibility to autoimmune disease. We present single-cell RNA sequencing …
A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease
Late-onset Alzheimer's disease is a prevalent age-related polygenic disease that accounts
for 50–70% of dementia cases. Currently, only a fraction of the genetic variants underlying …
for 50–70% of dementia cases. Currently, only a fraction of the genetic variants underlying …
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 …
Genome-wide meta-analysis, fine-map** and integrative prioritization implicate new Alzheimer's disease risk genes
Genome-wide association studies have discovered numerous genomic loci associated with
Alzheimer's disease (AD); yet the causal genes and variants are incompletely identified. We …
Alzheimer's disease (AD); yet the causal genes and variants are incompletely identified. We …
The impact of sex on gene expression across human tissues
INTRODUCTION Many complex human phenotypes, including diseases, exhibit sex-
differentiated characteristics. These sex differences have been variously attributed to …
differentiated characteristics. These sex differences have been variously attributed to …
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 …
Molecular and evolutionary processes generating variation in gene expression
Heritable variation in gene expression is common within and between species. This
variation arises from mutations that alter the form or function of molecular gene regulatory …
variation arises from mutations that alter the form or function of molecular gene regulatory …
Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk
Key challenges for human genetics, precision medicine and evolutionary biology include
deciphering the regulatory code of gene expression and understanding the transcriptional …
deciphering the regulatory code of gene expression and understanding the transcriptional …