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 …
A multi-ancestry polygenic risk score improves risk prediction for coronary artery disease
Identification of individuals at highest risk of coronary artery disease (CAD)—ideally before
onset—remains an important public health need. Prior studies have developed genome …
onset—remains an important public health need. Prior studies have developed genome …
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 …
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 …
Challenges and opportunities for developing more generalizable polygenic risk scores
Polygenic risk scores (PRS) estimate an individual's genetic likelihood of complex traits and
diseases by aggregating information across multiple genetic variants identified from genome …
diseases by aggregating information across multiple genetic variants identified from genome …
A new method for multiancestry polygenic prediction improves performance across diverse populations
Polygenic risk scores (PRSs) increasingly predict complex traits; however, suboptimal
performance in non-European populations raise concerns about clinical applications and …
performance in non-European populations raise concerns about clinical applications and …
Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations
T Ge, MR Irvin, A Patki, V Srinivasasainagendra… - Genome medicine, 2022 - Springer
Abstract Background Type 2 diabetes (T2D) is a worldwide scourge caused by both genetic
and environmental risk factors that disproportionately afflicts communities of color …
and environmental risk factors that disproportionately afflicts communities of color …
Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction
Atrial fibrillation (AF) is a common cardiac arrhythmia resulting in increased risk of stroke.
Despite highly heritable etiology, our understanding of the genetic architecture of AF …
Despite highly heritable etiology, our understanding of the genetic architecture of AF …