Principles and methods for transferring polygenic risk scores across global populations
Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait
or disease and may become a valuable tool for advancing precision medicine. However …
or disease and may become a valuable tool for advancing precision medicine. However …
[PDF][PDF] Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease
Biobanks facilitate genome-wide association studies (GWASs), which have mapped
genomic loci across a range of human diseases and traits. However, most biobanks are …
genomic loci across a range of human diseases and traits. However, most biobanks are …
UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits
DJ Thompson, D Wells, S Selzam, I Peneva, R Moore… - MedRxiv, 2022 - medrxiv.org
We present and assess the UK Biobank (UKB) Polygenic Risk Score (PRS) Release, a set of
PRSs for 28 diseases and 25 quantitative traits being made available on the individuals in …
PRSs for 28 diseases and 25 quantitative traits being made available on the individuals in …
[PDF][PDF] Meta-analysis fine-mapping is often miscalibrated at single-variant resolution
Meta-analysis is pervasively used to combine multiple genome-wide association studies
(GWASs). Fine-mapping of meta-analysis studies is typically performed as in a single-cohort …
(GWASs). Fine-mapping of meta-analysis studies is typically performed as in a single-cohort …
Multi-ancestry and multi-trait genome-wide association meta-analyses inform clinical risk prediction for systemic lupus erythematosus
Systemic lupus erythematosus is a heritable autoimmune disease that predominantly affects
young women. To improve our understanding of genetic etiology, we conduct multi-ancestry …
young women. To improve our understanding of genetic etiology, we conduct multi-ancestry …
Quantifying portable genetic effects and improving cross-ancestry genetic prediction with GWAS summary statistics
Polygenic risk scores (PRS) calculated from genome-wide association studies (GWAS) of
Europeans are known to have substantially reduced predictive accuracy in non-European …
Europeans are known to have substantially reduced predictive accuracy in non-European …
[PDF][PDF] Low and differential polygenic score generalizability among African populations due largely to genetic diversity
African populations are vastly underrepresented in genetic studies but have the most
genetic variation and face wide-ranging environmental exposures globally. Because …
genetic variation and face wide-ranging environmental exposures globally. Because …
[PDF][PDF] Multi-ancestry meta-analysis of asthma identifies novel associations and highlights the value of increased power and diversity
Asthma is a complex disease that varies widely in prevalence across populations. The
extent to which genetic variation contributes to these disparities is unclear, as the genetics …
extent to which genetic variation contributes to these disparities is unclear, as the genetics …
Recent advances in polygenic scores: translation, equitability, methods and FAIR tools
Polygenic scores (PGS) can be used for risk stratification by quantifying individuals' genetic
predisposition to disease, and many potentially clinically useful applications have been …
predisposition to disease, and many potentially clinically useful applications have been …
[PDF][PDF] A practical guideline of genomics-driven drug discovery in the era of global biobank meta-analysis
Genomics-driven drug discovery is indispensable for accelerating the development of novel
therapeutic targets. However, the drug discovery framework based on evidence from …
therapeutic targets. However, the drug discovery framework based on evidence from …