Cross-ancestry atlas of gene, isoform, and splicing regulation in the developing human brain
Neuropsychiatric genome-wide association studies (GWASs), including those for autism
spectrum disorder and schizophrenia, show strong enrichment for regulatory elements in the …
spectrum disorder and schizophrenia, show strong enrichment for regulatory elements in the …
[HTML][HTML] Cross-ancestry, cell-type-informed atlas of gene, isoform, and splicing regulation in the developing human brain
Genomic regulatory elements active in the developing human brain are notably enriched in
genetic risk for neuropsychiatric disorders, including autism spectrum disorder (ASD) …
genetic risk for neuropsychiatric disorders, including autism spectrum disorder (ASD) …
[HTML][HTML] Genetic control of expression and splicing in developing human brain informs disease mechanisms
Tissue-specific regulatory regions harbor substantial genetic risk for disease. Because brain
development is a critical epoch for neuropsychiatric disease susceptibility, we characterized …
development is a critical epoch for neuropsychiatric disease susceptibility, we characterized …
Isoform-level transcriptome-wide association uncovers extensive novel genetic risk mechanisms for neuropsychiatric disorders in the human brain
Integrative methods, like colocalization and transcriptome-wide association studies (TWAS),
identify transcriptomic mechanisms at only a fraction of trait-associated genetic loci from …
identify transcriptomic mechanisms at only a fraction of trait-associated genetic loci from …
Developmental and genetic regulation of the human cortex transcriptome illuminate schizophrenia pathogenesis
Genome-wide association studies have identified 108 schizophrenia risk loci, but biological
mechanisms for individual loci are largely unknown. Using developmental, genetic and …
mechanisms for individual loci are largely unknown. Using developmental, genetic and …
[HTML][HTML] Transcriptomic insight into the polygenic mechanisms underlying psychiatric disorders
Over the past decade, large-scale genetic studies have successfully identified hundreds of
genetic variants robustly associated with risk for psychiatric disorders. However, mechanistic …
genetic variants robustly associated with risk for psychiatric disorders. However, mechanistic …
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 …
Developmental and genetic regulation of the human cortex transcriptome in schizophrenia
GWAS have identified over 108 loci that confer risk for schizophrenia, but risk mechanisms
for individual loci are largely unknown. Using developmental, genetic, and illness-based …
for individual loci are largely unknown. Using developmental, genetic, and illness-based …
Expression quantitative trait loci in the developing human brain and their enrichment in neuropsychiatric disorders
Background Genetic influences on gene expression in the human fetal brain plausibly
impact upon a variety of postnatal brain-related traits, including susceptibility to …
impact upon a variety of postnatal brain-related traits, including susceptibility to …
Understanding the impact of SNPs associated with autism spectrum disorder on biological pathways in the human fetal and adult cortex
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by
significant and complex genetic etiology. GWAS studies have identified genetic variants …
significant and complex genetic etiology. GWAS studies have identified genetic variants …