Genome-wide association studies

E Uffelmann, QQ Huang, NS Munung… - Nature Reviews …, 2021 - nature.com
Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants
across many genomes to find those statistically associated with a specific trait or disease …

The genetic basis of major depressive disorder

J Flint - Molecular psychiatry, 2023 - nature.com
The genetic dissection of major depressive disorder (MDD) ranks as one of the success
stories of psychiatric genetics, with genome-wide association studies (GWAS) identifying …

Systematic differences in discovery of genetic effects on gene expression and complex traits

H Mostafavi, JP Spence, S Naqvi, JK Pritchard - Nature Genetics, 2023 - nature.com
Most signals in genome-wide association studies (GWAS) of complex traits implicate
noncoding genetic variants with putative gene regulatory effects. However, currently …

New insights into the genetic etiology of Alzheimer's disease and related dementias

C Bellenguez, F Küçükali, IE Jansen, L Kleineidam… - Nature …, 2022 - nature.com
Abstract Characterization of the genetic landscape of Alzheimer's disease (AD) and related
dementias (ADD) provides a unique opportunity for a better understanding of the associated …

Map** 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 …

Stroke genetics informs drug discovery and risk prediction across ancestries

A Mishra, R Malik, T Hachiya, T Jürgenson, S Namba… - Nature, 2022 - nature.com
Previous genome-wide association studies (GWASs) of stroke—the second leading cause of
death worldwide—were conducted predominantly in populations of European ancestry …

Human microglial state dynamics in Alzheimer's disease progression

N Sun, MB Victor, YP Park, X **ong, AN Scannail… - Cell, 2023 - cell.com
Altered microglial states affect neuroinflammation, neurodegeneration, and disease but
remain poorly understood. Here, we report 194,000 single-nucleus microglial transcriptomes …

webTWAS: a resource for disease candidate susceptibility genes identified by transcriptome-wide association study

C Cao, J Wang, D Kwok, F Cui, Z Zhang… - Nucleic acids …, 2022 - academic.oup.com
The development of transcriptome-wide association studies (TWAS) has enabled
researchers to better identify and interpret causal genes in many diseases. However, there …

GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

E Pairo-Castineira, K Rawlik, AD Bretherick, T Qi, Y Wu… - Nature, 2023 - nature.com
Critical illness in COVID-19 is an extreme and clinically homogeneous disease phenotype
that we have previously shown to be highly efficient for discovery of genetic associations …

Genetic mechanisms of critical illness in COVID-19

E Pairo-Castineira, S Clohisey, L Klaric, AD Bretherick… - Nature, 2021 - nature.com
Host-mediated lung inflammation is present, and drives mortality, in the critical illness
caused by coronavirus disease 2019 (COVID-19). Host genetic variants associated with …