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 …

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 …

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 …

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 …

[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 …

[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 …

Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia

DS Palmer, DP Howrigan, SB Chapman, R Adolfsson… - Nature …, 2022 - nature.com
We report results from the Bipolar Exome (BipEx) collaboration analysis of whole-exome
sequencing of 13,933 patients with bipolar disorder (BD) matched with 14,422 controls. We …

[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 …

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 …

Ten challenges for clinical translation in psychiatric genetics

EM Derks, JG Thorp, ZF Gerring - Nature genetics, 2022 - nature.com
Genome-wide association studies have identified hundreds of robust genetic associations
underlying psychiatric disorders and provided important biological insights into disease …