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 …
[HTML][HTML] Addressing the challenges of polygenic scores in human genetic research
The genoty** of millions of human samples has made it possible to evaluate variants
across the human genome for their possible association with risks for numerous diseases …
across the human genome for their possible association with risks for numerous diseases …
Sources of gene expression variation in a globally diverse human cohort
Genetic variation that influences gene expression and splicing is a key source of phenotypic
diversity,,,–. Although invaluable, studies investigating these links in humans have been …
diversity,,,–. Although invaluable, studies investigating these links in humans have been …
[HTML][HTML] Recommendations on the use and reporting of race, ethnicity, and ancestry in genetic research: Experiences from the NHLBI TOPMed program
How race, ethnicity, and ancestry are used in genomic research has wide-ranging
implications for how research is translated into clinical care and incorporated into public …
implications for how research is translated into clinical care and incorporated into public …
Beyond the Human Genome Project: The Age of Complete Human Genome Sequences and Pangenome References
The Human Genome Project was an enormous accomplishment, providing a foundation for
countless explorations into the genetics and genomics of the human species. Yet for many …
countless explorations into the genetics and genomics of the human species. Yet for many …
Testing the generalizability of ancestry-specific polygenic risk scores to predict prostate cancer in sub-Saharan Africa
Background Genome-wide association studies do not always replicate well across
populations, limiting the generalizability of polygenic risk scores (PRS). Despite higher …
populations, limiting the generalizability of polygenic risk scores (PRS). Despite higher …
The background and legacy of Lewontin's apportionment of human genetic diversity
J Novembre - … Transactions of the Royal Society B, 2022 - royalsocietypublishing.org
Lewontin's 1972 article 'The apportionment of human diversity'described a key feature of
human genetic diversity that would have profound impacts on conversations regarding …
human genetic diversity that would have profound impacts on conversations regarding …
Genetic similarity versus genetic ancestry groups as sample descriptors in human genetics
G Coop - ar** within a local Arabidopsis thaliana population more fully reveals the genetic architecture for defensive metabolite diversity
A paradoxical finding from genome-wide association studies (GWAS) in plants is that
variation in metabolite profiles typically maps to a small number of loci, despite the …
variation in metabolite profiles typically maps to a small number of loci, despite the …
Imputation accuracy across global human populations
JL Cahoon, X Rui, E Tang, C Simons, J Langie… - The American Journal of …, 2024 - cell.com
Genotype imputation is now fundamental for genome-wide association studies but lacks
fairness due to the underrepresentation of references from non-European ancestries. The …
fairness due to the underrepresentation of references from non-European ancestries. The …