[PDF][PDF] 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 …

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 …

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

JM Fu, FK Satterstrom, M Peng, H Brand, RL Collins… - Nature …, 2022 - nature.com
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely
observed in the general population. We explored the genes disrupted by these variants from …

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

V Trubetskoy, AF Pardiñas, T Qi, G Panagiotaropoulou… - Nature, 2022 - nature.com
Schizophrenia has a heritability of 60–80%, much of which is attributable to common risk
alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with …

[HTML][HTML] Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

X Zhou, P Feliciano, C Shu, T Wang, I Astrovskaya… - Nature …, 2022 - nature.com
To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of
rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new …

Polygenic architecture of rare coding variation across 394,783 exomes

DJ Weiner, A Nadig, KA Jagadeesh, KK Dey, BM Neale… - Nature, 2023 - nature.com
Both common and rare genetic variants influence complex traits and common diseases.
Genome-wide association studies have identified thousands of common-variant …

GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data

M Babadi, JM Fu, SK Lee, AN Smirnov, LD Gauthier… - Nature …, 2023 - nature.com
Copy number variants (CNVs) are major contributors to genetic diversity and disease. While
standardized methods, such as the genome analysis toolkit (GATK), exist for detecting short …

Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains

D Demontis, GB Walters, G Athanasiadis, R Walters… - Nature …, 2023 - nature.com
Attention-deficit hyperactivity disorder (ADHD) is a prevalent neurodevelopmental disorder
with a major genetic component. Here, we present a genome-wide association study meta …

[PDF][PDF] Functional neuroimaging in psychiatry and the case for failing better

MM Nour, Y Liu, RJ Dolan - Neuron, 2022 - cell.com
Psychiatric disorders encompass complex aberrations of cognition and affect and are
among the most debilitating and poorly understood of any medical condition. Current …

[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 …