Brain-trait-associated variants impact cell-type-specific gene regulation during neurogenesis

N Aygün, AL Elwell, D Liang, MJ Lafferty… - The American Journal of …, 2021 - cell.com
Interpretation of the function of non-coding risk loci for neuropsychiatric disorders and brain-
relevant traits via gene expression and alternative splicing quantitative trait locus (e/sQTL) …

[HTML][HTML] Genetic control of expression and splicing in developing human brain informs disease mechanisms

RL Walker, G Ramaswami, C Hartl, N Mancuso… - Cell, 2019 - cell.com
Tissue-specific regulatory regions harbor substantial genetic risk for disease. Because brain
development is a critical epoch for neuropsychiatric disease susceptibility, we characterized …

Decoding the non‐coding genome: elucidating genetic risk outside the coding genome

CL Barr, VL Misener - Genes, Brain and Behavior, 2016 - Wiley Online Library
Current evidence emerging from genome‐wide association studies indicates that the
genetic underpinnings of complex traits are likely attributable to genetic variation that …

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

S Guelfi, K D'sa, JA Botía, J Vandrovcova… - Nature …, 2020 - nature.com
Genome-wide association studies have generated an increasing number of common
genetic variants associated with neurological and psychiatric disease risk. An improved …

Cell-type-specific effects of genetic variation on chromatin accessibility during human neuronal differentiation

D Liang, AL Elwell, N Aygün, O Krupa, JM Wolter… - Nature …, 2021 - nature.com
Common genetic risk for neuropsychiatric disorders is enriched in regulatory elements
active during cortical neurogenesis. However, it remains poorly understood as to how these …

Expression quantitative trait loci in the developing human brain and their enrichment in neuropsychiatric disorders

HE O'Brien, E Hannon, MJ Hill, CC Toste… - Genome biology, 2018 - Springer
Background Genetic influences on gene expression in the human fetal brain plausibly
impact upon a variety of postnatal brain-related traits, including susceptibility to …

Isoform-level transcriptome-wide association uncovers genetic risk mechanisms for neuropsychiatric disorders in the human brain

A Bhattacharya, DD Vo, C Jops, M Kim, C Wen… - Nature Genetics, 2023 - nature.com
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 …

Cell-type-specific cis-eQTLs in eight human brain cell types identify novel risk genes for psychiatric and neurological disorders

J Bryois, D Calini, W Macnair, L Foo, E Urich… - Nature …, 2022 - nature.com
To date, most expression quantitative trait loci (eQTL) studies, which investigate how genetic
variants contribute to gene expression, have been performed in heterogeneous brain …

Cross-ancestry atlas of gene, isoform, and splicing regulation in the developing human brain

C Wen, M Margolis, R Dai, P Zhang, PF Przytycki… - Science, 2024 - science.org
Neuropsychiatric genome-wide association studies (GWASs), including those for autism
spectrum disorder and schizophrenia, show strong enrichment for regulatory elements in the …

Single nucleus multi-omics links human cortical cell regulatory genome diversity to disease risk variants

C Luo, H Liu, F Xie, EJ Armand, K Siletti, TE Bakken… - Biorxiv, 2019 - biorxiv.org
Single-cell technologies enable measure of unique cellular signatures, but are typically
limited to a single modality. Computational approaches allow integration of diverse single …