[HTML][HTML] Genome-wide association studies in ancestrally diverse populations: opportunities, methods, pitfalls, and recommendations

RE Peterson, K Kuchenbaecker, RK Walters, CY Chen… - Cell, 2019 - cell.com
Genome-wide association studies (GWASs) have focused primarily on populations of
European descent, but it is essential that diverse populations become better represented …

Genetic correlations of polygenic disease traits: from theory to practice

W Van Rheenen, WJ Peyrot, AJ Schork… - Nature Reviews …, 2019 - nature.com
The genetic correlation describes the genetic relationship between two traits and can
contribute to a better understanding of the shared biological pathways and/or the causality …

Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases

Y Chen, T Lu, U Pettersson-Kymmer, ID Stewart… - Nature …, 2023 - nature.com
Metabolic processes can influence disease risk and provide therapeutic targets. By
conducting genome-wide association studies of 1,091 blood metabolites and 309 metabolite …

A saturated map of common genetic variants associated with human height

L Yengo, S Vedantam, E Marouli, J Sidorenko, E Bartell… - Nature, 2022 - nature.com
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–
50% of phenotypic variation in human height, but identifying the specific variants and …

Genetic control of RNA splicing and its distinct role in complex trait variation

T Qi, Y Wu, H Fang, F Zhang, S Liu, J Zeng, J Yang - Nature genetics, 2022 - nature.com
Most genetic variants identified from genome-wide association studies (GWAS) in humans
are noncoding, indicating their role in gene regulation. Previous studies have shown …

Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility

International Multiple Sclerosis Genetics Consortium*†… - Science, 2019 - science.org
INTRODUCTION Multiple sclerosis (MS) is an inflammatory and degenerative disease of the
central nervous system (CNS) that often presents in young adults. Over the past decade …

[HTML][HTML] Polygenic prediction of weight and obesity trajectories from birth to adulthood

AV Khera, M Chaffin, KH Wade, S Zahid, J Brancale… - Cell, 2019 - cell.com
Severe obesity is a rapidly growing global health threat. Although often attributed to
unhealthy lifestyle choices or environmental factors, obesity is known to be heritable and …

Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data

P Wainschtein, D Jain, Z Zheng, LA Cupples… - Nature …, 2022 - nature.com
Analyses of data from genome-wide association studies on unrelated individuals have
shown that, for human traits and diseases, approximately one-third to two-thirds of …

Fine-mapping inflammatory bowel disease loci to single-variant resolution

H Huang, M Fang, L Jostins, M Umićević Mirkov… - Nature, 2017 - nature.com
Inflammatory bowel diseases are chronic gastrointestinal inflammatory disorders that affect
millions of people worldwide. Genome-wide association studies have identified 200 …

Genome-wide association study identifies 112 new loci for body mass index in the Japanese population

M Akiyama, Y Okada, M Kanai, A Takahashi… - Nature …, 2017 - nature.com
Obesity is a risk factor for a wide variety of health problems. In a genome-wide association
study (GWAS) of body mass index (BMI) in Japanese people (n= 173,430), we found 85 loci …