Brain cell type–specific enhancer–promoter interactome maps and disease-risk association
Noncoding genetic variation is a major driver of phenotypic diversity, but functional
interpretation is challenging. To better understand common genetic variation associated with …
interpretation is challenging. To better understand common genetic variation associated with …
Functional regulatory variants implicate distinct transcriptional networks in dementia
Predicting the function of noncoding variation is a major challenge in modern genetics. In
this study, we used massively parallel reporter assays to screen 5706 variants identified …
this study, we used massively parallel reporter assays to screen 5706 variants identified …
Epigenomic dissection of Alzheimer's disease pinpoints causal variants and reveals epigenome erosion
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 …
their mechanisms and AD transcriptional regulatory circuitry are poorly understood. Here …
Integrative functional genomic analysis of human brain development and neuropsychiatric risks
INTRODUCTION The brain is responsible for cognition, behavior, and much of what makes
us uniquely human. The development of the brain is a highly complex process, and this …
us uniquely human. The development of the brain is a highly complex process, and this …
Cell subtype-specific effects of genetic variation in the Alzheimer's disease brain
The relationship between genetic variation and gene expression in brain cell types and
subtypes remains understudied. Here, we generated single-nucleus RNA sequencing data …
subtypes remains understudied. Here, we generated single-nucleus RNA sequencing data …
Human whole genome genotype and transcriptome data for Alzheimer's and other neurodegenerative diseases
Previous genome-wide association studies (GWAS), conducted by our group and others,
have identified loci that harbor risk variants for neurodegenerative diseases, including …
have identified loci that harbor risk variants for neurodegenerative diseases, including …
Genetics of the human microglia regulome refines Alzheimer's disease risk loci
Microglia are brain myeloid cells that play a critical role in neuroimmunity and the etiology of
Alzheimer's disease (AD), yet our understanding of how the genetic regulatory landscape …
Alzheimer's disease (AD), yet our understanding of how the genetic regulatory landscape …
Isoform-level transcriptome-wide association uncovers genetic risk mechanisms for neuropsychiatric disorders in the human brain
Methods integrating genetics with transcriptomic reference panels prioritize risk genes and
mechanisms at only a fraction of trait-associated genetic loci, due in part to an overreliance …
mechanisms at only a fraction of trait-associated genetic loci, due in part to an overreliance …
Integrative network analysis of nineteen brain regions identifies molecular signatures and networks underlying selective regional vulnerability to Alzheimer's disease
Background Alzheimer's disease (AD) is the most common form of dementia, characterized
by progressive cognitive impairment and neurodegeneration. However, despite extensive …
by progressive cognitive impairment and neurodegeneration. However, despite extensive …
Single-cell epigenomic analyses implicate candidate causal variants at inherited risk loci for Alzheimer's and Parkinson's diseases
Genome-wide association studies of neurological diseases have identified thousands of
variants associated with disease phenotypes. However, most of these variants do not alter …
variants associated with disease phenotypes. However, most of these variants do not alter …