polygenic risk

This paper introduces PolyPred and PolyPred+ to improve cross-population polygenic risk score accuracy by addressing LD, MAF, and causal effect size differences using fine-mapping and non-European training data.

The paper develops sparse polygenic risk scores for 813 traits using UK Biobank data, showing significant predictive performance and a correlation between variant count and performance.

This study improves polygenic score prediction across traits by incorporating local genetic correlation and heritability estimates from genetically correlated phenotypes.

This study shows that polygenic risk scores for iron levels and related diseases increase the risk of clinical outcomes in HFE p.C282Y homozygotes, but not in females or compound heterozygotes.

This paper introduces polygenic risk vectors (PRV) to improve genetic risk stratification for cardio-metabolic diseases by combining additive and dominant genetic effects, outperforming traditional polygenic risk scores.

This study uses a multivariate genetic approach to analyze personality and cognitive traits, identifying pleiotropy and improving polygenic prediction.

This paper introduces BayesRB, an extension of BayesR for dichotomous traits, showing improved SNP effect estimation and disease risk prediction compared to traditional methods.

This study characterizes the genomes of mouse lines selected for specific traits over 140 generations, revealing genetic variation and candidate genes associated with fertility, obesity, and endurance.

This study uses polygenic risk scores to predict BMI increase in first-episode psychosis patients, finding shared genetic variants between schizophrenia and BMI contribute significantly to the prediction.

The paper introduces BB-QTL mapping to study complex traits in yeast, revealing polygenic, pleiotropic, and epistatic genetic architectures with increased sample size.

The paper estimates the fraction of disease heritability mediated by genes linked to SNPs without using eQTLs, finding that the closest gene mediates 27% of heritability and some genes outside the top ten also contribute significantly.

The paper studies genotype by environment interactions in rice under drought conditions using the Global MAGIC population, finding that most alleles have conditionally neutral effects and that shoot growth during drought is linked to crown root number.

The paper shows that marker-based heritability estimators are biased under assortative mating and proposes corrected estimators for traits under equilibrium assortative mating.

This study evaluates the stability of polygenic scores across different genome-wide association studies, finding low individual-level consistency and highlighting challenges for precision medicine.

This paper shows that polygenic risk scores (PRS) overestimate predictive accuracy when datasets have overlapping subjects, using Alzheimer's disease and other traits as examples.

This study identifies novel blood pressure variants through pleiotropy analysis and improves polygenic risk scores for hypertension and cardiovascular disease.

This study evaluates the portability of polygenic scores within the same cohort across nine ancestry groups, showing reduced accuracy with increasing genetic distance.

PAGEANT provides a framework for genetic reporting tools by analyzing genomic data to assess health risks and genetic traits, using publicly available genome datasets.

This paper introduces BayPR, a Bayesian method that assigns pathogenicity probabilities to genetic variants using population data, achieving high accuracy for Mendelian disorders.

This study assesses how polygenic risk scores, high-impact monogenic variants, and family history influence breast and prostate cancer risk using UK Biobank data.

This paper introduces DeepPRS, a deep learning-based polygenic risk score model that outperforms existing methods in predicting risk for common diseases using genome-wide genotype data.

The paper identifies candidate SNPs under natural selection in autoimmune disorder risk loci and shows they colocalize with selected variants, suggesting functional relevance and implications for autoimmunity.

The paper computes polygenic risk scores for COVID-19 severity in Indian sub-populations using GWAS summary statistics and finds a positive correlation between genetic risk scores and mortality.

This paper applies genome-wide association, prediction, and heritability analyses to bacterial data, identifying genetic factors influencing antibiotic resistance and within-host survival in Streptococcus pneumoniae.

The paper introduces a gamified cognitive ability measure, Pathfinder, which shows heritability and genetic prediction of general cognitive ability.

This study shows that polygenic scores for drinking and smoking predict alcohol and nicotine use problems from adolescence to young adulthood, with smoking PGS also capturing broader genetic liability for substance use.

This study identifies polygenic signals of sex-differential selection in humans using UK Biobank data, showing sex-specific effects on survival, reproduction, and fitness.

The paper introduces a new genomic relationship matrix that improves genomic heritability estimation and breeding value prediction across populations.

This study investigates the genetic basis of Drosophila melanogaster's defense against Beauveria bassiana using QTL mapping and evolve and resequence approaches, revealing genetic variation and trade-offs in immune defense.

This study evaluates the utility of breast and prostate cancer polygenic risk scores across different ancestry groups using UK Biobank data, showing significant enrichments in cancer cases within top PRS percentiles.