polygenic risk

Genome-wide heritability analysis of severe malaria susceptibility and resistance reveals evidence of polygenic inheritance

The paper estimates SNP-heritability of severe malaria susceptibility and resistance across three African populations, finding polygenic inheritance with significant enrichment in protein coding regions.

Positioning Personal Polygenic Risk score against the population background.

This paper presents a method to standardize polygenic risk scores across populations and demonstrates its application to Alzheimer's disease risk estimation.

Influence of genetic interactions on polygenic prediction

This study shows that genetic interactions reduce polygenic prediction accuracy across divergent populations.

Software as a Service for the Genomic Prediction of Complex Diseases.

The paper develops a SaaS tool for genomic risk prediction of complex diseases using PRS and demonstrates its superior predictive performance compared to existing methods and clinical markers.

Summary statistic analyses can mistake confounding bias for heritability

This paper shows that LDSC and SumHer can misestimate heritability due to confounding bias and covariate adjustments in GWAS data.

Evidence of polygenic adaptation at height-associated loci in mainland Europeans and Sardinians

The paper re-examines polygenic adaptation at height-associated loci in Sardinians and mainland Europeans using UKB and BBJ data, finding evidence of adaptation in Sardinians and a subtle signal in mainland Europeans.

Polygenic Risk Scores for Cardio-renal-metabolic Diseases in the Penn Medicine Biobank

This study develops polygenic risk scores for cardio-renal-metabolic diseases in the Penn Medicine Biobank and finds limited predictive value in African ancestry individuals.

Gephebase, a Database of Genotype-Phenotype Relationships for natural and domesticated variation in Eukaryotes

Gephebase compiles genotype-phenotype relationships from natural and domesticated eukaryotic variation to support evolutionary genetics research and applications.

Bayesian analysis of GWAS summary data reveals differential signatures of natural selection across human complex traits and functional genomic categories

Genome-Wide Polygenic Risk Scores and prediction of Gestational Diabetes in South Asian Women

This study develops polygenic risk scores for gestational diabetes in South Asian women using multi-ethnic summary statistics and validates them in UK Biobank data, finding moderate heritability.

Direct evidence of an increasing mutational load in humans

The paper analyzes genome data from 2,062 individuals, including ancient humans, to show that risk alleles for diseases like asthma and diabetes have increased in frequency over 45,000 years in Europe, while deleterious homozygosity has decreased.

Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways

The paper uses pleiotropic meta-analysis to identify genetic loci associated with cognition, education, and schizophrenia, revealing distinct biological mechanisms for concordant and discordant genetic correlations.

Genetic Nature or Genetic Nurture? Quantifying Bias in Analyses Using Polygenic Scores

The paper quantifies bias in polygenic score analyses due to genetic nurture effects, showing opposite biases in OLS and family fixed effects regressions.

Ancestry-specific polygenic scores and SNP heritability of 25(OH)D in African- and European-ancestry populations

The paper develops ancestry-specific polygenic scores for 25(OH)D levels, showing they predict blood concentrations and inform vitamin D supplementation needs.

Analytical strategies to include the X-chromosome in variance heterogeneity analyses: evidence for trait-specific polygenic variance structure

The paper investigates X-chromosome variance heterogeneity in quantitative traits using generalized Levene's test and sex-stratified analysis, finding possible polygenic structure for human height variance.

Comparing within- and between-family polygenic score prediction

This study compares within- and between-family polygenic score predictions for eight life outcomes in DZ twins, finding that cognitive traits show greater between-family prediction, which is explained by socio-economic status.

Nuclear genetic regulation of human mitochondrial RNA modification

The paper quantifies variation in mitochondrial RNA modification levels across multiple tissues and identifies nuclear genetic variants associated with these modifications and disease phenotypes.

Genetics of 38 blood and urine biomarkers in the UK Biobank

UK Biobank genetics of 38 blood and urine lab tests yields 1,857 independent loci; combining biomarker and disease polygenic scores improves FinnGen prediction of incident renal failure and alcoholic cirrhosis.

On PRS for complex polygenic trait prediction

This paper investigates the performance of polygenic risk scores (PRS) for complex traits, showing how prediction accuracy depends on sample size, SNP count, and true causal SNP count.

Validation of genome-wide polygenic risk scores for coronary artery disease in French Canadians

This study validates two genome-wide polygenic risk scores for coronary artery disease in French Canadians, showing good performance for prevalent CAD but limited utility for incident and recurrent CAD.

Geographic variation and bias in polygenic scores of complex diseases and traits in Finland

This study examines geographic variation and bias in polygenic scores for complex traits in Finland, finding that population genetic structure may cause apparent geographic patterns rather than direct genotype-phenotype associations.

Polygenic risk score of alcohol consumption predicts alcohol-related morbidity and all-cause mortality

Whole-genome modeling accurately predicts quantitative traits, as revealed in plants.

The paper shows whole-genome modeling explains phenotypic variation in plants, with admixture proportions explaining most variation for quantitative traits but not symbiotic nitrogen fixation.

Genome-wide estimates of heritability and genetic correlations in Essential Tremor

This study estimates heritability and genetic correlations for essential tremor using genome-wide data, finding high heritability and no significant genetic overlap with Parkinson's disease or restless legs syndrome.

A genetic hazard score to personalize prostate cancer screening, applied to population data

The paper evaluates a polygenic hazard score for prostate cancer screening, showing it improves positive predictive value by adjusting screening age based on genetic risk.

Overlooked roles of DNA damage and maternal age in generating human germline mutations

The paper challenges the textbook view of germline mutations by showing that DNA damage and maternal age significantly contribute to mutation rates, with young fathers contributing more mutations than young mothers.

Polygenic Adaptation has Impacted Multiple Anthropometric Traits

The paper investigates polygenic adaptation in anthropometric traits across global populations but finds replication issues in height-related results due to stratification problems in datasets.

Polygenic Prediction via Bayesian Regression and Continuous Shrinkage Priors

This paper introduces PRS-CS, a Bayesian polygenic prediction method that improves accuracy over existing approaches for complex diseases and traits.

Genomic prediction of cognitive traits in childhood and adolescence

The paper uses genome-wide association study summary statistics to predict cognitive traits in children, showing 11% variance in intelligence and 16% in educational achievement at age 12-16.

Gene-level heritability analysis explains the polygenic architecture of cancer

This study uses a new method to analyze gene-level heritability in cancer, identifying genes that explain significant heritability and are involved in tumorigenesis.