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 …

A brief history of human disease genetics

M Claussnitzer, JH Cho, R Collins, NJ Cox… - Nature, 2020 - nature.com
A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease …

Genome-wide characterization of circulating metabolic biomarkers

MK Karjalainen, S Karthikeyan, C Oliver-Williams… - Nature, 2024 - nature.com
Genome-wide association analyses using high-throughput metabolomics platforms have led
to novel insights into the biology of human metabolism,,,,,–. This detailed knowledge of the …

A cross-population atlas of genetic associations for 220 human phenotypes

S Sakaue, M Kanai, Y Tanigawa, J Karjalainen… - Nature …, 2021 - nature.com
Current genome-wide association studies do not yet capture sufficient diversity in
populations and scope of phenotypes. To expand an atlas of genetic associations in non …

The power of genetic diversity in genome-wide association studies of lipids

SE Graham, SL Clarke, KHH Wu, S Kanoni, GJM Zajac… - Nature, 2021 - nature.com
Increased blood lipid levels are heritable risk factors of cardiovascular disease with varied
prevalence worldwide owing to different dietary patterns and medication use. Despite …

Improving polygenic prediction in ancestrally diverse populations

Y Ruan, YF Lin, YCA Feng, CY Chen, M Lam, Z Guo… - Nature …, 2022 - nature.com
Polygenic risk scores (PRS) have attenuated cross-population predictive performance. As
existing genome-wide association studies (GWAS) have been conducted predominantly in …

Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

MH Chen, LM Raffield, A Mousas, S Sakaue… - Cell, 2020 - cell.com
Most loci identified by GWASs have been found in populations of European ancestry (EUR).
In trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including …

Clinical use of current polygenic risk scores may exacerbate health disparities

AR Martin, M Kanai, Y Kamatani, Y Okada, BM Neale… - Nature …, 2019 - nature.com
Polygenic risk scores (PRS) are poised to improve biomedical outcomes via precision
medicine. However, the major ethical and scientific challenge surrounding clinical …

Genetics of 35 blood and urine biomarkers in the UK Biobank

N Sinnott-Armstrong, Y Tanigawa, D Amar, N Mars… - Nature …, 2021 - nature.com
Clinical laboratory tests are a critical component of the continuum of care. We evaluate the
genetic basis of 35 blood and urine laboratory measurements in the UK Biobank (n …

Associations between blood type and COVID-19 infection, intubation, and death

M Zietz, J Zucker, NP Tatonetti - Nature communications, 2020 - nature.com
The rapid global spread of the novel coronavirus SARS-CoV-2 has strained healthcare and
testing resources, making the identification and prioritization of individuals most at-risk a …