Genetic correlations of polygenic disease traits: from theory to practice
W Van Rheenen, WJ Peyrot, AJ Schork… - Nature Reviews …, 2019 - nature.com
The genetic correlation describes the genetic relationship between two traits and can
contribute to a better understanding of the shared biological pathways and/or the causality …
contribute to a better understanding of the shared biological pathways and/or the causality …
Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics
Genome-wide association studies provide a powerful means of identifying loci and genes
contributing to disease, but in many cases, the related cell types/states through which genes …
contributing to disease, but in many cases, the related cell types/states through which genes …
Causal effects on complex traits are similar for common variants across segments of different continental ancestries within admixed individuals
Individuals of admixed ancestries (for example, African Americans) inherit a mosaic of
ancestry segments (local ancestry) originating from multiple continental ancestral …
ancestry segments (local ancestry) originating from multiple continental ancestral …
Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity
Disease-associated single-nucleotide polymorphisms (SNPs) generally do not implicate
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …
Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases
The overwhelming majority of participants in current genetic studies are of European
ancestry. To elucidate disease biology in the East Asian population, we conducted a …
ancestry. To elucidate disease biology in the East Asian population, we conducted a …
Leveraging base-pair mammalian constraint to understand genetic variation and human disease
Thousands of genomic regions have been associated with heritable human diseases, but
attempts to elucidate biological mechanisms are impeded by an inability to discern which …
attempts to elucidate biological mechanisms are impeded by an inability to discern which …
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 …
Quantifying genetic effects on disease mediated by assayed gene expression levels
Disease variants identified by genome-wide association studies (GWAS) tend to overlap
with expression quantitative trait loci (eQTLs), but it remains unclear whether this overlap is …
with expression quantitative trait loci (eQTLs), but it remains unclear whether this overlap is …
Functionally informed fine-mapping and polygenic localization of complex trait heritability
Fine-mapping aims to identify causal variants impacting complex traits. We propose
PolyFun, a computationally scalable framework to improve fine-mapping accuracy by …
PolyFun, a computationally scalable framework to improve fine-mapping accuracy by …
Genetic analyses identify widespread sex-differential participation bias
N Pirastu, M Cordioli, P Nandakumar, G Mignogna… - Nature Genetics, 2021 - nature.com
Genetic association results are often interpreted with the assumption that study participation
does not affect downstream analyses. Understanding the genetic basis of participation bias …
does not affect downstream analyses. Understanding the genetic basis of participation bias …