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 …

[HTML][HTML] Transcriptomic insight into the polygenic mechanisms underlying psychiatric disorders

LM Hernandez, M Kim, GD Hoftman, JR Haney… - Biological …, 2021 - Elsevier
Over the past decade, large-scale genetic studies have successfully identified hundreds of
genetic variants robustly associated with risk for psychiatric disorders. However, mechanistic …

The road to precision psychiatry: translating genetics into disease mechanisms

MJ Gandal, V Leppa, H Won, NN Parikshak… - Nature …, 2016 - nature.com
Hundreds of genetic loci increasing risk for neuropsychiatric disorders have recently been
identified. This success, perhaps paradoxically, has posed challenges for therapeutic …

Characterizing the causal pathway for genetic variants associated with neurological phenotypes using human brain-derived proteome data

NK Kibinge, CL Relton, TR Gaunt… - The American Journal of …, 2020 - cell.com
Leveraging high-dimensional molecular datasets can help us develop mechanistic insight
into associations between genetic variants and complex traits. In this study, we integrated …

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 …

[HTML][HTML] Emerging methods and resources for biological interrogation of neuropsychiatric polygenic signal

E Uffelmann, D Posthuma - Biological Psychiatry, 2021 - Elsevier
Most neuropsychiatric disorders are highly polygenic, implicating hundreds to thousands of
causal genetic variants that span much of the genome. This widespread polygenicity …

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 …

Synaptic and brain-expressed gene sets relate to the shared genetic risk across five psychiatric disorders

AR Hammerschlag, CA de Leeuw… - Psychological …, 2020 - cambridge.org
BackgroundMounting evidence shows genetic overlap between multiple psychiatric
disorders. However, the biological underpinnings of shared risk for psychiatric disorders are …

Revealing the brain's molecular architecture

PsychENCODE Consortium* - Science, 2018 - science.org
The brain, our most complex organ, is at the root of both the cognitive and behavioral
repertoires that make us unique as a species and underlies susceptibility to neuropsychiatric …

Molecular mechanisms underlying noncoding risk variations in psychiatric genetic studies

X Xiao, H Chang, M Li - Molecular psychiatry, 2017 - nature.com
Recent large-scale genetic approaches such as genome-wide association studies have
allowed the identification of common genetic variations that contribute to risk architectures of …