Genetics of circadian rhythms and sleep in human health and disease

JM Lane, J Qian, E Mignot, S Redline… - Nature Reviews …, 2023 - nature.com
Circadian rhythms and sleep are fundamental biological processes integral to human
health. Their disruption is associated with detrimental physiological consequences …

Monogenic diabetes

A Bonnefond, R Unnikrishnan, A Doria… - Nature Reviews …, 2023 - nature.com
Monogenic diabetes includes several clinical conditions generally characterized by early-
onset diabetes, such as neonatal diabetes, maturity-onset diabetes of the young (MODY) …

Benefits and limitations of genome-wide association studies

V Tam, N Patel, M Turcotte, Y Bossé, G Paré… - Nature Reviews …, 2019 - nature.com
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …

A global overview of pleiotropy and genetic architecture in complex traits

K Watanabe, S Stringer, O Frei, M Umićević Mirkov… - Nature …, 2019 - nature.com
After a decade of genome-wide association studies (GWASs), fundamental questions in
human genetics, such as the extent of pleiotropy across the genome and variation in genetic …

Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases

K Ishigaki, M Akiyama, M Kanai, A Takahashi… - Nature …, 2020 - nature.com
The overwhelming majority of participants in current genetic studies are of European
ancestry. To elucidate disease biology in the East Asian population, we conducted a …

The trans-ancestral genomic architecture of glycemic traits

J Chen, CN Spracklen, G Marenne, A Varshney… - Nature …, 2021 - nature.com
Glycemic traits are used to diagnose and monitor type 2 diabetes and cardiometabolic
health. To date, most genetic studies of glycemic traits have focused on individuals of …

Fine-map** type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

A Mahajan, D Taliun, M Thurner, NR Robertson… - Nature …, 2018 - nature.com
We expanded GWAS discovery for type 2 diabetes (T2D) by combining data from 898,130
European-descent individuals (9% cases), after imputation to high-density reference panels …

Type 2 diabetes genetic loci informed by multi-trait associations point to disease mechanisms and subtypes: a soft clustering analysis

MS Udler, J Kim, M von Grotthuss… - PLoS …, 2018 - journals.plos.org
Background Type 2 diabetes (T2D) is a heterogeneous disease for which (1) disease-
causing pathways are incompletely understood and (2) subclassification may improve …

[HTML][HTML] Human demographic history impacts genetic risk prediction across diverse populations

AR Martin, CR Gignoux, RK Walters, GL Wojcik… - The American Journal of …, 2017 - cell.com
The vast majority of genome-wide association studies (GWASs) are performed in
Europeans, and their transferability to other populations is dependent on many factors (eg …

Comparative genetic architectures of schizophrenia in East Asian and European populations

M Lam, CY Chen, Z Li, AR Martin, J Bryois, X Ma… - Nature …, 2019 - nature.com
Schizophrenia is a debilitating psychiatric disorder with approximately 1% lifetime risk
globally. Large-scale schizophrenia genetic studies have reported primarily on European …