A cross-population atlas of genetic associations for 220 human phenotypes
Current genome-wide association studies do not yet capture sufficient diversity in
populations and scope of phenotypes. To expand an atlas of genetic associations in non …
populations and scope of phenotypes. To expand an atlas of genetic associations in non …
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 …
Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis
Rheumatoid arthritis (RA) is a highly heritable complex disease with unknown etiology. Multi-
ancestry genetic research of RA promises to improve power to detect genetic signals, fine …
ancestry genetic research of RA promises to improve power to detect genetic signals, fine …
Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power
Admixed populations are routinely excluded from genomic studies due to concerns over
population structure. Here, we present a statistical framework and software package, Tractor …
population structure. Here, we present a statistical framework and software package, Tractor …
Improving the trans-ancestry portability of polygenic risk scores by prioritizing variants in predicted cell-type-specific regulatory elements
Poor trans-ancestry portability of polygenic risk scores is a consequence of Eurocentric
genetic studies and limited knowledge of shared causal variants. Leveraging regulatory …
genetic studies and limited knowledge of shared causal variants. Leveraging regulatory …
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 …
Reconstruction of the personal information from human genome reads in gut metagenome sequencing data
Y Tomofuji, K Sonehara, T Kishikawa, Y Maeda… - Nature …, 2023 - nature.com
Human DNA present in faecal samples can result in a small number of human reads in gut
shotgun metagenomic sequencing data. However, it is presently unclear how much …
shotgun metagenomic sequencing data. However, it is presently unclear how much …
[PDF][PDF] Genome-wide risk prediction of common diseases across ancestries in one million people
Polygenic risk scores (PRS) measure genetic disease susceptibility by combining risk effects
across the genome. For coronary artery disease (CAD), type 2 diabetes (T2D), and breast …
across the genome. For coronary artery disease (CAD), type 2 diabetes (T2D), and breast …
[PDF][PDF] A unified framework for cross-population trait prediction by leveraging the genetic correlation of polygenic traits
The development of polygenic risk scores (PRSs) has proved useful to stratify the general
European population into different risk groups. However, PRSs are less accurate in non …
European population into different risk groups. However, PRSs are less accurate in non …
Population-specific causal disease effect sizes in functionally important regions impacted by selection
Many diseases exhibit population-specific causal effect sizes with trans-ethnic genetic
correlations significantly less than 1, limiting trans-ethnic polygenic risk prediction. We …
correlations significantly less than 1, limiting trans-ethnic polygenic risk prediction. We …