Schizophrenia genomics: genetic complexity and functional insights

PF Sullivan, S Yao, J Hjerling-Leffler - Nature Reviews Neuroscience, 2024 - nature.com
Determining the causes of schizophrenia has been a notoriously intractable problem,
resistant to a multitude of investigative approaches over centuries. In recent decades …

Single-nucleus transcriptomic profiling of human orbitofrontal cortex reveals convergent effects of aging and psychiatric disease

AS Fröhlich, N Gerstner, M Gagliardi, M Ködel… - Nature …, 2024 - nature.com
Aging is a complex biological process and represents the largest risk factor for
neurodegenerative disorders. The risk for neurodegenerative disorders is also increased in …

A data-driven single-cell and spatial transcriptomic map of the human prefrontal cortex

LA Huuki-Myers, A Spangler, NJ Eagles… - Science, 2024 - science.org
The molecular organization of the human neocortex historically has been studied in the
context of its histological layers. However, emerging spatial transcriptomic technologies …

Single-cell genomics and regulatory networks for 388 human brains

PS Emani, JJ Liu, D Clarke, M Jensen, J Warrell… - Science, 2024 - science.org
Single-cell genomics is a powerful tool for studying heterogeneous tissues such as the
brain. Yet little is understood about how genetic variants influence cell-level gene …

[HTML][HTML] Genetic diversity in schizophrenia: developmental implications of ultra-rare, protein-truncating mutations

JD Clarin, NN Bouras, WJ Gao - Genes, 2024 - mdpi.com
The genetic basis of schizophrenia (SZ) remains elusive despite its characterization as a
highly heritable disorder. This incomplete understanding has led to stagnation in …

Integrated single cell and unsupervised spatial transcriptomic analysis defines molecular anatomy of the human dorsolateral prefrontal cortex

L Huuki-Myers, A Spangler, N Eagles… - BioRxiv, 2023 - pmc.ncbi.nlm.nih.gov
Generation of a molecular neuroanatomical map of the human prefrontal cortex reveals
novel spatial domains and cell-cell interactions relevant for psychiatric disease. The …

Single-nucleus transcriptome profiling of dorsolateral prefrontal cortex: mechanistic roles for neuronal gene expression, including the 17q21. 31 locus, in PTSD stress …

C Chatzinakos, CD Pernia, FG Morrison… - American Journal of …, 2023 - psychiatryonline.org
Objective: Multidisciplinary studies of posttraumatic stress disorder (PTSD) and major
depressive disorder (MDD) implicate the dorsolateral prefrontal cortex (DLPFC) in disease …

Massively parallel reporter assay investigates shared genetic variants of eight psychiatric disorders

S Lee, JC McAfee, J Lee, A Gomez, AT Ledford… - Cell, 2025 - cell.com
A meta-genome-wide association study across eight psychiatric disorders has highlighted
the genetic architecture of pleiotropy in major psychiatric disorders. However, mechanisms …

[HTML][HTML] Network-wide risk convergence in gene co-expression identifies reproducible genetic hubs of schizophrenia risk

C Borcuk, M Parihar, L Sportelli, JE Kleinman, JH Shin… - Neuron, 2024 - cell.com
The omnigenic model posits that genetic risk for traits with complex heritability involves
cumulative effects of peripheral genes on mechanistic" core genes," suggesting that in a …

Evaluating performance and applications of sample-wise cell deconvolution methods on human brain transcriptomic data

R Dai, T Chu, M Zhang, X Wang, A Jourdon, F Wu… - Science …, 2024 - science.org
Sample-wise deconvolution methods estimate cell-type proportions and gene expressions
in bulk tissue samples, yet their performance and biological applications remain unexplored …