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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 …
Genome-wide characterization of circulating metabolic biomarkers
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 …
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
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 …
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 …
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 …
Genetics of 35 blood and urine biomarkers in the UK Biobank
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 …
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
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 …