polygenic risk

Validation of a polygenic risk score for Frailty in the Lothian Birth Cohort and English Longitudinal Study of Ageing

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

Polygenic risk scores for the prediction of common cancers in East Asians: A population-based prospective cohort study

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.

Validity of European-centric derived cardiometabolic polygenic risk scores in multi-ancestry populations

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.

Transferability of European-derived cardiometabolic polygenic risk scores in the South Asians and their interplay with family history

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

Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus.

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

Re-weighting MC1R, ASIP and IRF4 risk variants optimises polygenic risk scores for keratinocyte cancer stratification in solid organ transplant recipients.

BridgePRS: A powerful trans-ancestry Polygenic Risk Score method

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.

Quantifying portable genetic effects and improving cross-ancestry genetic prediction with GWAS summary statistics

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

Learning High-Order Interactions for Polygenic Risk Prediction

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.

Epistatic Features and Machine Learning Improve Alzheimer's Risk Prediction Over Polygenic Risk Scores

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.

Accurate and Efficient Estimation of Local Heritability using Summary Statistics and LD Matrix

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

Accuracy of haplotype estimation and whole genome imputation affects complex trait analyses in complex biobanks

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.

Adaptations to water stress and pastoralism in the Turkana of northwest Kenya

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

Detecting and Adjusting for Hidden Biases due to Phenotype Misclassification in Genome-Wide Association Studies

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.

Boosting polygenic risk scores

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

Functional and molecular characterization of suicidality factors using phenotypic and genome-wide data

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.

Global biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts

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.

Pervasive Downward Bias in Estimates of Liability Scale Heritability in GWAS Meta-Analysis: A Simple Solution

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.

Genetic diversity in global populations of the Critically Endangered addax (Addax nasomaculatus) and its implications for conservation

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.

Genome-wide Associations, Polygenic Risk, and Mendelian Randomization Reveal Limited Interactions between John Henryism and Cynicism

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

Low-pass Whole Genome Imputation Enables the Characterization of Polygenic Breast Cancer Risk in the Indigenous Arab Population

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.

A Polygenic Score for Reduced Kidney Function and Adverse Outcomes in a Chronic Kidney Disease Cohort

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 impact of assortative mating, participation bias, and socioeconomic status on the polygenic risk of behavioral and psychiatric traits

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.

Unappreciated Subcontinental Admixture in Europeans and European Americans: Implications for Genetic Epidemiology Studies

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.

Uganda Genome Resource: A rich research database for genomic studies of communicable and non-communicable diseases in Africa

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.

Polygenic Health Index, General Health, Pleiotropy, Embryo Selection and Disease Risk

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.

Improved prediction of blood biomarkers using deep learning

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

Genetic parameters of colostrum and calf serum antibodies in Swedish dairy cattle

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.

The Construction of Multi-ethnic Polygenic Risk Score using Transfer Learning

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.

Taiwan Biobank: a rich biomedical research database of the Taiwanese population

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.