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 …
Polygenic risk scores for cardiovascular disease: a scientific statement from the American Heart Association
Cardiovascular disease is the leading contributor to years lost due to disability or premature
death among adults. Current efforts focus on risk prediction and risk factor mitigation ‚which …
death among adults. Current efforts focus on risk prediction and risk factor mitigation ‚which …
A saturated map of common genetic variants associated with human height
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–
50% of phenotypic variation in human height, but identifying the specific variants and …
50% of phenotypic variation in human height, but identifying the specific variants and …
Stroke genetics informs drug discovery and risk prediction across ancestries
Previous genome-wide association studies (GWASs) of stroke—the second leading cause of
death worldwide—were conducted predominantly in populations of European ancestry …
death worldwide—were conducted predominantly in populations of European ancestry …
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 …
Polygenic scoring accuracy varies across the genetic ancestry continuum
Polygenic scores (PGSs) have limited portability across different groupings of individuals (for
example, by genetic ancestries and/or social determinants of health), preventing their …
example, by genetic ancestries and/or social determinants of health), preventing their …
Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction
Behaviors and disorders related to self-regulation, such as substance use, antisocial
behavior and attention-deficit/hyperactivity disorder, are collectively referred to as …
behavior and attention-deficit/hyperactivity disorder, are collectively referred to as …
[PDF][PDF] Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease
Biobanks facilitate genome-wide association studies (GWASs), which have mapped
genomic loci across a range of human diseases and traits. However, most biobanks are …
genomic loci across a range of human diseases and traits. However, most biobanks are …
Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries
Z Liu, R Liu, H Gao, S Jung, X Gao, R Sun, X Liu… - Nature …, 2023 - nature.com
Inflammatory bowel diseases (IBDs) are chronic disorders of the gastrointestinal tract with
the following two subtypes: Crohn's disease (CD) and ulcerative colitis (UC). To date, most …
the following two subtypes: Crohn's disease (CD) and ulcerative colitis (UC). To date, most …
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 …