Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases
Identification of therapeutic targets from genome-wide association studies (GWAS) requires
insights into downstream functional consequences. We harmonized 8,613 RNA-sequencing …
insights into downstream functional consequences. We harmonized 8,613 RNA-sequencing …
Functional characterization of genetic variant effects on expression
Thousands of common genetic variants in the human population have been associated with
disease risk and phenotypic variation by genome-wide association studies (GWAS) …
disease risk and phenotypic variation by genome-wide association studies (GWAS) …
Benchmarking brain organoid recapitulation of fetal corticogenesis
Brain organoids are becoming increasingly relevant to dissect the molecular mechanisms
underlying psychiatric and neurological conditions. The in vitro recapitulation of key features …
underlying psychiatric and neurological conditions. The in vitro recapitulation of key features …
Bulk and single-nucleus transcriptomics highlight intra-telencephalic and somatostatin neurons in Alzheimer's disease
Cortical neuron loss is a pathological hallmark of late-onset Alzheimer's disease (AD).
However, it remains unclear which neuronal subtypes beyond broad excitatory and …
However, it remains unclear which neuronal subtypes beyond broad excitatory and …
Benchmark of cellular deconvolution methods using a multi-assay reference dataset from postmortem human prefrontal cortex
Background: Cellular deconvolution of bulk RNA-sequencing (RNA-seq) data using single
cell or nuclei RNA-seq (sc/snRNA-seq) reference data is an important strategy for estimating …
cell or nuclei RNA-seq (sc/snRNA-seq) reference data is an important strategy for estimating …
Applications of single-cell genomics and computational strategies to study common disease and population-level variation
The advent and rapid development of single-cell technologies have made it possible to
study cellular heterogeneity at an unprecedented resolution and scale. Cellular …
study cellular heterogeneity at an unprecedented resolution and scale. Cellular …
Allele-specific analysis reveals exon-and cell-type-specific regulatory effects of Alzheimer's disease-associated genetic variants
Elucidating regulatory effects of Alzheimer's disease (AD)-associated genetic variants is
critical for unraveling their causal pathways and understanding the pathology. However …
critical for unraveling their causal pathways and understanding the pathology. However …
Differences in molecular sampling and data processing explain variation among single-cell and single-nucleus RNA-seq experiments
A mechanistic understanding of the biological and technical factors that impact transcript
measurements is essential to designing and analyzing single-cell and single-nucleus RNA …
measurements is essential to designing and analyzing single-cell and single-nucleus RNA …
Detecting the effect of genetic diversity on brain composition in an Alzheimer's disease mouse model
Alzheimer's disease (AD) is broadly characterized by neurodegeneration, pathology
accumulation, and cognitive decline. There is considerable variation in the progression of …
accumulation, and cognitive decline. There is considerable variation in the progression of …
Cognitive resilience to Alzheimer's disease characterized by cell‐type abundance
INTRODUCTION The molecular basis of cognitive resilience (CR) among pathologically
confirmed Alzheimer's disease (AD) cases is not well understood. METHODS Abundance of …
confirmed Alzheimer's disease (AD) cases is not well understood. METHODS Abundance of …