Tutorial: a guide to performing polygenic risk score analyses

SW Choi, TSH Mak, PF O'Reilly - Nature protocols, 2020 - nature.com
A polygenic score (PGS) or polygenic risk score (PRS) is an estimate of an individual's
genetic liability to a trait or disease, calculated according to their genotype profile and …

The role of prefrontal cortex in cognitive control and executive function

NP Friedman, TW Robbins - Neuropsychopharmacology, 2022 - nature.com
Abstract Concepts of cognitive control (CC) and executive function (EF) are defined in terms
of their relationships with goal-directed behavior versus habits and controlled versus …

Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

N Mullins, AJ Forstner, KS O'Connell, B Coombes… - Nature …, 2021 - nature.com
Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-
wide association study of 41,917 bipolar disorder cases and 371,549 controls of European …

Identification of common genetic risk variants for autism spectrum disorder

J Grove, S Ripke, TD Als, M Mattheisen, RK Walters… - Nature …, 2019 - nature.com
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals

JJ Lee, R Wedow, A Okbay, E Kong, O Maghzian… - Nature …, 2018 - nature.com
Here we conducted a large-scale genetic association analysis of educational attainment in a
sample of approximately 1.1 million individuals and identify 1,271 independent genome …

Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder

D Demontis, RK Walters, J Martin, M Mattheisen… - Nature …, 2019 - nature.com
Attention deficit/hyperactivity disorder (ADHD) is a highly heritable childhood behavioral
disorder affecting 5% of children and 2.5% of adults. Common genetic variants contribute …

Tau activation of microglial cGAS–IFN reduces MEF2C-mediated cognitive resilience

JC Udeochu, S Amin, Y Huang, L Fan, ERS Torres… - Nature …, 2023 - nature.com
Pathological hallmarks of Alzheimer's disease (AD) precede clinical symptoms by years,
indicating a period of cognitive resilience before the onset of dementia. Here, we report that …

Genome-wide association study identifies 30 loci associated with bipolar disorder

EA Stahl, G Breen, AJ Forstner, A McQuillin, S Ripke… - Nature …, 2019 - nature.com
Bipolar disorder is a highly heritable psychiatric disorder. We performed a genome-wide
association study (GWAS) including 20,352 cases and 31,358 controls of European descent …

Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence

JE Savage, PR Jansen, S Stringer, K Watanabe… - Nature …, 2018 - nature.com
Intelligence is highly heritable and a major determinant of human health and well-being.
Recent genome-wide meta-analyses have identified 24 genomic loci linked to variation in …

Analysis of shared heritability in common disorders of the brain

Brainstorm Consortium, V Anttila, B Bulik-Sullivan… - Science, 2018 - science.org
INTRODUCTION Brain disorders may exhibit shared symptoms and substantial
epidemiological comorbidity, inciting debate about their etiologic overlap. However, detailed …