Genome-wide association studies
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 …
across many genomes to find those statistically associated with a specific trait or disease …
[PDF][PDF] 15 years of GWAS discovery: realizing the promise
It has been 15 years since the advent of the genome-wide association study (GWAS) era.
Here, we review how this experimental design has realized its promise by facilitating an …
Here, we review how this experimental design has realized its promise by facilitating an …
A single-cell atlas of human and mouse white adipose tissue
MP Emont, C Jacobs, AL Essene, D Pant, D Tenen… - Nature, 2022 - nature.com
White adipose tissue, once regarded as morphologically and functionally bland, is now
recognized to be dynamic, plastic and heterogenous, and is involved in a wide array of …
recognized to be dynamic, plastic and heterogenous, and is involved in a wide array of …
Genetic diversity fuels gene discovery for tobacco and alcohol use
Tobacco and alcohol use are heritable behaviours associated with 15% and 5.3% of
worldwide deaths, respectively, due largely to broad increased risk for disease and injury …
worldwide deaths, respectively, due largely to broad increased risk for disease and injury …
Leveraging fine-mapping and multipopulation training data to improve cross-population polygenic risk scores
Polygenic risk scores suffer reduced accuracy in non-European populations, exacerbating
health disparities. We propose PolyPred, a method that improves cross-population …
health disparities. We propose PolyPred, a method that improves cross-population …
A generalized linear mixed model association tool for biobank-scale data
Compared with linear mixed model-based genome-wide association (GWA) methods,
generalized linear mixed model (GLMM)-based methods have better statistical properties …
generalized linear mixed model (GLMM)-based methods have better statistical properties …
Rare variant contribution to human disease in 281,104 UK Biobank exomes
Genome-wide association studies have uncovered thousands of common variants
associated with human disease, but the contribution of rare variants to common disease …
associated with human disease, but the contribution of rare variants to common disease …
Genome-wide enhancer maps link risk variants to disease genes
Genome-wide association studies (GWAS) have identified thousands of noncoding loci that
are associated with human diseases and complex traits, each of which could reveal insights …
are associated with human diseases and complex traits, each of which could reveal insights …
Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology
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 …
wide association study of 41,917 bipolar disorder cases and 371,549 controls of European …
Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease
More than 800 million people suffer from kidney disease, yet the mechanism of kidney
dysfunction is poorly understood. In the present study, we define the genetic association with …
dysfunction is poorly understood. In the present study, we define the genetic association with …