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 …
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 …
biomedical traits, particularly those related to the onset and progression of human disease …
[HTML][HTML] Bidirectional causality between immunoglobulin G N-glycosylation and metabolic traits: A mendelian randomization study
Although the association between immunoglobulin G (IgG) N-glycosylation and metabolic
traits has been previously identified, the causal association between them remains unclear …
traits has been previously identified, the causal association between them remains unclear …
A cross-population atlas of genetic associations for 220 human phenotypes
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 …
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
Increased blood lipid levels are heritable risk factors of cardiovascular disease with varied
prevalence worldwide owing to different dietary patterns and medication use. Despite …
prevalence worldwide owing to different dietary patterns and medication use. Despite …
Improving polygenic prediction in ancestrally diverse populations
Polygenic risk scores (PRS) have attenuated cross-population predictive performance. As
existing genome-wide association studies (GWAS) have been conducted predominantly in …
existing genome-wide association studies (GWAS) have been conducted predominantly in …
Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases
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 …
ancestry. To elucidate disease biology in the East Asian population, we conducted a …
Clinical use of current polygenic risk scores may exacerbate health disparities
Polygenic risk scores (PRS) are poised to improve biomedical outcomes via precision
medicine. However, the major ethical and scientific challenge surrounding clinical …
medicine. However, the major ethical and scientific challenge surrounding clinical …
Associations between blood type and COVID-19 infection, intubation, and death
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 …
testing resources, making the identification and prioritization of individuals most at-risk a …
[PDF][PDF] Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations
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 …
In trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including …