Genomics, convergent neuroscience and progress in understanding autism spectrum disorder

HR Willsey, AJ Willsey, B Wang… - Nature Reviews …, 2022 - nature.com
More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …

Principles and methods for transferring polygenic risk scores across global populations

L Kachuri, N Chatterjee, J Hirbo, DJ Schaid… - Nature Reviews …, 2023 - nature.com
Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait
or disease and may become a valuable tool for advancing precision medicine. However …

Rare coding variants in ten genes confer substantial risk for schizophrenia

T Singh, T Poterba, D Curtis, H Akil, M Al Eissa… - Nature, 2022 - nature.com
Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …

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 …

[HTML][HTML] Genetic control of RNA splicing and its distinct role in complex trait variation

T Qi, Y Wu, H Fang, F Zhang, S Liu, J Zeng, J Yang - Nature Genetics, 2022 - nature.com
Most genetic variants identified from genome-wide association studies (GWAS) in humans
are noncoding, indicating their role in gene regulation. Previous studies have shown …

Exploring the genetic overlap between twelve psychiatric disorders

C Romero, J Werme, PR Jansen, J Gelernter… - Nature …, 2022 - nature.com
The widespread comorbidity among psychiatric disorders demonstrated in epidemiological
studies–is mirrored by non-zero, positive genetic correlations from large-scale genetic …

Genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic and molecular genetic levels of analysis

AD Grotzinger, TT Mallard, WA Akingbuwa, HF Ip… - Nature …, 2022 - nature.com
We interrogate the joint genetic architecture of 11 major psychiatric disorders at
biobehavioral, functional genomic and molecular genetic levels of analysis. We identify four …

15 years of GWAS discovery: Realizing the promise

A Abdellaoui, L Yengo, KJH Verweij… - The American Journal of …, 2023 - cell.com
It has been 15 years since the advent of the genome-wide association study (GWAS) era.
Here, we review how this experimental design has realized its promise by facilitating an …

[HTML][HTML] Computational psychiatry: from synapses to sentience

K Friston - Molecular psychiatry, 2023 - nature.com
This review considers computational psychiatry from a particular viewpoint: namely, a
commitment to explaining psychopathology in terms of pathophysiology. It rests on the …

Mendelian randomization analyses support causal relationships between brain imaging-derived phenotypes and risk of psychiatric disorders

J Guo, K Yu, SS Dong, S Yao, Y Rong, H Wu… - Nature …, 2022 - nature.com
Observational studies have reported the correlations between brain imaging-derived
phenotypes (IDPs) and psychiatric disorders; however, whether the relationships are causal …