[HTML][HTML] 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 …
[PDF][PDF] 15 years of GWAS discovery: realizing the promise
It has been 15 years since the advent of the genome-wide association study (GWAS) era.
Here, we review how this experimental design has realized its promise by facilitating an …
Here, we review how this experimental design has realized its promise by facilitating an …
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 …
[HTML][HTML] A compendium of uniformly processed human gene expression and splicing quantitative trait loci
N Kerimov, JD Hayhurst, K Peikova, JR Manning… - Nature …, 2021 - nature.com
Many gene expression quantitative trait locus (eQTL) studies have published their summary
statistics, which can be used to gain insight into complex human traits by downstream …
statistics, which can be used to gain insight into complex human traits by downstream …
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 …
From basic science to clinical application of polygenic risk scores: a primer
Importance Polygenic risk scores (PRS) are predictors of the genetic susceptibilities of
individuals to diseases. All individuals have DNA risk variants for all common diseases, but …
individuals to diseases. All individuals have DNA risk variants for all common diseases, but …
[HTML][HTML] Polygenic risk scores: from research tools to clinical instruments
Genome-wide association studies have shown unequivocally that common complex
disorders have a polygenic genetic architecture and have enabled researchers to identify …
disorders have a polygenic genetic architecture and have enabled researchers to identify …
[HTML][HTML] A large-scale genome-wide association study meta-analysis of cannabis use disorder
Background Variation in liability to cannabis use disorder has a strong genetic component
(estimated twin and family heritability about 50–70%) and is associated with negative …
(estimated twin and family heritability about 50–70%) and is associated with negative …
[HTML][HTML] Principal component analyses (PCA)-based findings in population genetic studies are highly biased and must be reevaluated
E Elhaik - Scientific Reports, 2022 - nature.com
Abstract Principal Component Analysis (PCA) is a multivariate analysis that reduces the
complexity of datasets while preserving data covariance. The outcome can be visualized on …
complexity of datasets while preserving data covariance. The outcome can be visualized on …
The genetic architecture of depression in individuals of East Asian ancestry: a genome-wide association study
Importance Most previous genome-wide association studies (GWAS) of depression have
used data from individuals of European descent. This limits the understanding of the …
used data from individuals of European descent. This limits the understanding of the …