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 …

Opportunities and challenges for transcriptome-wide association studies

M Wainberg, N Sinnott-Armstrong, N Mancuso… - Nature …, 2019 - nature.com
Transcriptome-wide association studies (TWAS) integrate genome-wide association studies
(GWAS) and gene expression datasets to identify gene–trait associations. In this …

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] A single-cell atlas of chromatin accessibility in the human genome

K Zhang, JD Hocker, M Miller, X Hou, J Chiou… - Cell, 2021 - cell.com
Current catalogs of regulatory sequences in the human genome are still incomplete and lack
cell type resolution. To profile the activity of gene regulatory elements in diverse cell types …

The polygenic and monogenic basis of blood traits and diseases

D Vuckovic, EL Bao, P Akbari, CA Lareau, A Mousas… - Cell, 2020 - cell.com
Blood cells play essential roles in human health, underpinning physiological processes
such as immunity, oxygen transport, and clotting, which when perturbed cause a significant …

Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease

S Koyama, K Ito, C Terao, M Akiyama, M Horikoshi… - Nature …, 2020 - nature.com
To elucidate the genetics of coronary artery disease (CAD) in the Japanese population, we
conducted a large-scale genome-wide association study of 168,228 individuals of Japanese …

Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility

A Sazonovs, CR Stevens, GR Venkataraman, K Yuan… - Nature …, 2022 - nature.com
Genome-wide association studies (GWASs) have identified hundreds of loci associated with
Crohn's disease (CD). However, as with all complex diseases, robust identification of the …

Microbial imbalance in inflammatory bowel disease patients at different taxonomic levels

MT Alam, GCA Amos, ARJ Murphy, S Murch… - Gut pathogens, 2020 - Springer
Background Inflammatory bowel disease (IBD), is a debilitating group of chronic diseases
including Crohn's Disease (CD) and ulcerative colitis (UC), which causes inflammation of …

IL-12, IL-23 and IL-17 in IBD: immunobiology and therapeutic targeting

AR Moschen, H Tilg, T Raine - Nature Reviews Gastroenterology & …, 2019 - nature.com
Abstract IL-12 and IL-23 are closely related cytokines with important roles in the regulation of
tissue inflammation. Converging evidence from studies in mice, human observational …

Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease

KM De Lange, L Moutsianas, JC Lee, CA Lamb… - Nature …, 2017 - nature.com
Genetic association studies have identified 215 risk loci for inflammatory bowel disease,,,,,,,,
thereby uncovering fundamental aspects of its molecular biology. We performed a genome …