[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 …

The synaptic hypothesis of schizophrenia version III: a master mechanism

OD Howes, EC Onwordi - Molecular Psychiatry, 2023 - nature.com
The synaptic hypothesis of schizophrenia has been highly influential. However, new
approaches mean there has been a step-change in the evidence available, and some tenets …

The functional and evolutionary impacts of human-specific deletions in conserved elements

JR Xue, A Mackay-Smith, K Mouri, MF Garcia… - Science, 2023 - science.org
Conserved genomic sequences disrupted in humans may underlie uniquely human
phenotypic traits. We identified and characterized 10,032 human-specific conserved …

Interpreting population-and family-based genome-wide association studies in the presence of confounding

C Veller, GM Coop - Plos Biology, 2024 - journals.plos.org
A central aim of genome-wide association studies (GWASs) is to estimate direct genetic
effects: the causal effects on an individual's phenotype of the alleles that they carry …

The impact of rare protein coding genetic variation on adult cognitive function

CY Chen, R Tian, T Ge, M Lam, G Sanchez-Andrade… - Nature Genetics, 2023 - nature.com
Compelling evidence suggests that human cognitive function is strongly influenced by
genetics. Here, we conduct a large-scale exome study to examine whether rare protein …

Challenging the utility of polygenic scores for social science: Environmental confounding, downward causation, and unknown biology

CH Burt - Behavioral and brain sciences, 2023 - cambridge.org
The sociogenomics revolution is upon us, we are told. Whether revolutionary or not,
sociogenomics is poised to flourish given the ease of incorporating polygenic scores (or …

QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration

J Advani, PA Mehta, AR Hamel, S Mehrotra… - Nature …, 2024 - nature.com
DNA methylation provides a crucial epigenetic mark linking genetic variations to
environmental influence. We have analyzed array-based DNA methylation profiles of 160 …

[HTML][HTML] Restoring the missing person to personalized medicine and precision psychiatry

A Gómez-Carrillo, V Paquin, G Dumas… - Frontiers in …, 2023 - frontiersin.org
Precision psychiatry has emerged as part of the shift to personalized medicine and builds on
frameworks such as the US National Institute of Mental Health Research Domain Criteria …

Celebrating a century of research in behavioral genetics

R Plomin - Behavior Genetics, 2023 - Springer
A century after the first twin and adoption studies of behavior in the 1920s, this review looks
back on the journey and celebrates milestones in behavioral genetic research. After a …

Persistent thinness and anorexia nervosa differ on a genomic level

C Hübel, M Abdulkadir, M Herle, AB Palmos… - European Journal of …, 2024 - nature.com
Thinness and anorexia nervosa are both characterised by persistent low weight. Individuals
with anorexia nervosa concurrently report distorted perceptions of their body and engage in …