[HTML][HTML] 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 …

[HTML][HTML] From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases

E Cano-Gamez, G Trynka - Frontiers in genetics, 2020 - frontiersin.org
Genome-wide association studies (GWAS) have successfully mapped thousands of loci
associated with complex traits. These associations could reveal the molecular mechanisms …

[HTML][HTML] 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 …

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] 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 …

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 …

[HTML][HTML] 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 …

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 …

[HTML][HTML] 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 …

[PDF][PDF] Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease

W Zhou, M Kanai, KHH Wu, H Rasheed, K Tsuo… - Cell Genomics, 2022 - cell.com
Biobanks facilitate genome-wide association studies (GWASs), which have mapped
genomic loci across a range of human diseases and traits. However, most biobanks are …