polygenic risk

This study validates a polygenic risk score for frailty using two independent cohorts, showing it predicts frailty at early ages with moderate variance explained.

This paper evaluates polygenic risk scores for predicting common cancers in East Asians using a large cohort, finding significant risk stratification for breast, prostate, and colorectal cancers.

This study evaluates the performance of European-derived polygenic risk scores for cardiometabolic traits in multi-ancestry populations, finding better performance in Europeans than in South Asians and African Caribbeans.

The paper assesses the transferability of European-derived polygenic risk scores for cardiometabolic diseases in South Asians and examines their interaction with family history.

This study identifies 43 genomic loci associated with reproductive success in 785,604 individuals, showing ongoing natural selection at the FADS locus.

BridgePRS improves polygenic risk score accuracy in non-European populations by leveraging shared genetic effects across ancestries, outperforming existing methods in simulated and real data.

This paper introduces X-Wing, a framework that improves genetic prediction across populations using GWAS summary statistics by identifying portable genetic effects.

This paper introduces hiPRS, a novel polygenic risk score method that models high-order SNP interactions, demonstrating superior performance in simulation studies and real data applications.

This study develops a paragenic risk score that improves Alzheimer's disease risk prediction by incorporating epistatic interactions and machine learning, outperforming traditional polygenic risk scores.

The paper introduces HEELS, a new estimator for local heritability using GWAS summary statistics and LD matrix, achieving high statistical efficiency comparable to REML.

The paper evaluates how haplotype estimation and whole genome imputation accuracy vary with data integration protocols and phasing methods in a large psychiatric biobank dataset.

The paper identifies genetic regions associated with adaptation to water stress and pastoralism in the Turkana people using genome sequencing.

This paper introduces PheMED, a tool to quantify effect size dilution in GWAS due to phenotypic misclassification, and demonstrates its applications in improving meta-analysis.

This paper introduces an efficient boosting algorithm for polygenic risk scores, showing improved computational efficiency and prediction accuracy compared to existing methods.

The paper compares two measures of suicidality using genome-wide data, finding that an aggregate phenotype has higher heritability and better predictive power than a genetically derived S-factor.

This study evaluates polygenic risk score methods across diverse biobanks and ancestries, finding that European reference panels often yield better performance, while PRS-CS outperforms P+T for high-heritability traits.

The paper shows that standard methods for liability-scale heritability estimation in GWAS meta-analysis can be downwardly biased and proposes a simple correction based on effective sample size summation.

The paper assesses genetic diversity in wild and ex situ addax populations to inform conservation strategies, finding wild populations retain more evolutionary diversity than ex situ and reintroduced populations.

The paper investigates genetic interactions between John Henryism and cynicism using GWAS and machine learning, finding no evidence of interaction despite significant genetic components.

This study uses low-pass whole genome sequencing to impute variants and construct polygenic risk scores for breast cancer in an underrepresented Arab population, finding associations with family history and age of presentation.

The paper assesses if a polygenic score for reduced kidney function predicts adverse outcomes in chronic kidney disease patients, finding significant associations but no improvement in prediction over existing risk equations.

The paper examines how assortative mating, participation bias, and socioeconomic status affect polygenic risk scores for behavioral and psychiatric traits using genetic and demographic data.

The paper shows European-ancestry populations are admixed at subcontinental levels, leading to false positives in genetic studies if ancestry is not properly accounted for.

The Uganda Genome Resource provides a genomic database for studying disease susceptibility and risk factors in Ugandan populations, with applications in discovering genetic loci, refining associations, and developing polygenic risk scores.

The paper constructs a polygenic health index using disease risk scores and validates it in the UK Biobank, finding higher scores correlate with reduced disease risk and longer life expectancy.

This study uses deep learning to predict blood and urine biomarkers from genetic data, outperforming linear methods and capturing non-linear and epistatic effects.

This study estimates the genetic parameters of antibody levels in colostrum and calf serum in Swedish dairy cattle and finds positive genetic correlations with IgG and negative correlations with somatic cell score.

This paper introduces TL-PRS, a transfer learning method for constructing polygenic risk scores across ancestries, achieving up to 42% average relative improvement in South Asian and African ancestry groups.

The paper introduces the Taiwan Biobank, a large-scale biobank with genetic and phenotypic data from 150,000 individuals, highlighting its population structure and potential for genetic research.