Allele-specific open chromatin in human iPSC neurons elucidates functional disease variants
Most neuropsychiatric disease risk variants are in noncoding sequences and lack functional
interpretation. Because regulatory sequences often reside in open chromatin, we reasoned …
interpretation. Because regulatory sequences often reside in open chromatin, we reasoned …
Mapping cis-regulatory chromatin contacts in neural cells links neuropsychiatric disorder risk variants to target genes
Mutations in gene regulatory elements have been associated with a wide range of complex
neuropsychiatric disorders. However, due to their cell-type specificity and difficulties in …
neuropsychiatric disorders. However, due to their cell-type specificity and difficulties in …
Open chromatin profiling in hiPSC-derived neurons prioritizes functional noncoding psychiatric risk variants and highlights neurodevelopmental loci
MP Forrest, H Zhang, W Moy, H McGowan, C Leites… - Cell stem cell, 2017 - cell.com
Most disease variants lie within noncoding genomic regions, making their functional
interpretation challenging. Because chromatin openness strongly influences transcriptional …
interpretation challenging. Because chromatin openness strongly influences transcriptional …
Cell-type-specific effects of genetic variation on chromatin accessibility during human neuronal differentiation
Common genetic risk for neuropsychiatric disorders is enriched in regulatory elements
active during cortical neurogenesis. However, it remains poorly understood as to how these …
active during cortical neurogenesis. However, it remains poorly understood as to how these …
Multiple genes in a single GWAS risk locus synergistically mediate aberrant synaptic development and function in human neurons
The mechanistic tie between genome-wide association study (GWAS)-implicated risk
variants and disease-relevant cellular phenotypes remains largely unknown. Here, using …
variants and disease-relevant cellular phenotypes remains largely unknown. Here, using …
An atlas of chromatin accessibility in the adult human brain
Most common genetic risk variants associated with neuropsychiatric disease are noncoding
and are thought to exert their effects by disrupting the function of cis regulatory elements …
and are thought to exert their effects by disrupting the function of cis regulatory elements …
Neuron-specific signatures in the chromosomal connectome associated with schizophrenia risk
INTRODUCTION Chromosomal conformations, topologically associated chromatin domains
(TADs) assembling in nested fashion across hundreds of kilobases, and other “three …
(TADs) assembling in nested fashion across hundreds of kilobases, and other “three …
Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder
INTRODUCTION Our understanding of the pathophysiology of psychiatric disorders,
including autism spectrum disorder (ASD), schizophrenia (SCZ), and bipolar disorder (BD) …
including autism spectrum disorder (ASD), schizophrenia (SCZ), and bipolar disorder (BD) …
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 …
Gene expression elucidates functional impact of polygenic risk for schizophrenia
Over 100 genetic loci harbor schizophrenia-associated variants, yet how these variants
confer liability is uncertain. The CommonMind Consortium sequenced RNA from …
confer liability is uncertain. The CommonMind Consortium sequenced RNA from …