polygenic risk

Eurocentric GWAS make polygenic scores less accurate in non-Europeans (mean 4.9-fold lower for UK Biobank Africans); equal-sized ancestry-matched GWAS predict better in Japanese and British individuals.

The paper introduces a biologically informed polygenic score for insulin receptor-related genes in mesocorticolimbic regions and shows it better predicts childhood impulsivity and early addiction risk than conventional scores.

This study constructs polygenic risk scores for multiple complex diseases using UK Biobank data and LASSO regression, achieving AUCs between 0.58 and 0.71, with improvements when incorporating age, sex, and larger case populations.

SummaryAUC approximates the AUC of polygenic risk scores using only summary statistics from validation datasets, enabling efficient evaluation of PRS models.

This paper introduces an efficient penalized logistic regression method for genetic risk prediction, showing improved performance over existing methods like C+T and random forests.

The paper quantifies frequency-dependent genetic architectures and negative selection effects across 25 UK Biobank traits using a statistical model and imputed genotypes.

This study uses polygenic scores to predict cognitive ability at age 70 and cognitive change from 70 to 79, finding limited predictive validity compared to APOE e4.

A meta-analysis of 807,553 people from 23andMe, UK Biobank and PGC finds 102 depression variants. 87 of them replicate in 1,306,354 individuals, and heritability is enriched in prefrontal brain regions.

This paper develops a statistical method to detect mutational bias and selection signals using GWAS data, finding evidence for non-neutral processes in traits like BMI and schizophrenia.

The paper investigates polygenic associations between ADHD and literacy/language abilities, finding that genetic confounding with educational attainment masks ADHD-specific reading impairments.

This paper introduces a reference-free method for generating polygenic risk scores (PRS) that avoids over-fitting and computational inefficiencies, and demonstrates applications in pleiotropy detection and mixed-model association testing.

The paper investigates factors contributing to variability in SNP-heritability and genetic correlation estimates between the iPSYCH case-cohort and external psychiatric disorder meta-studies.

The paper studies parallel genomic evolution in two wild honey bee populations responding to Varroa destructor, finding strong genetic correlations and selection on metabolic and developmental pathways.

The paper analyzes polygenic height scores from UK Biobank and finds reduced signals of selection compared to previous studies, suggesting potential issues with population stratification correction.

Genome-wide association meta-analysis of 20,183 ADHD cases and 35,191 controls finds 12 significant loci; signal concentrates in conserved regions, constrained genes, and CNS regulatory elements.

The paper develops methods to detect polygenic adaptation using genomic data and common garden trait measurements in structured populations, applying them to maize lines and landraces.

The paper conducts a GWAS of hippocampal subfield volumes in PTSD cases and trauma-exposed controls, identifying genetic associations and gene-environment interactions.

This paper compares genetic risk scores for breast cancer, finding that a combined metaGRS2 provides the strongest predictive ability in two cohorts.

The paper examines how environmental complexity influences the evolutionary fate of mutations in Bacillus subtilis, finding that pleiotropy and chance dominate over selection in heterogeneous environments.

This paper develops methods to calculate polygenic scores using raw genetic data from UK Biobank while avoiding overfitting, showing improved predictive power for six phenotypes.

The paper applies polygenic risk scoring to a large family with bipolar and depressive disorders to study genetic risk patterns and anticipation.

Meta-analysis of waist-to-hip ratio adjusted for BMI in 694,649 European-ancestry individuals identifies 463 signals in 346 loci, roughly one-third sexually dimorphic and mostly stronger in women.

The paper validates the SWAN Scale as a tool for ADHD trait-based genetic research, showing it predicts ADHD diagnoses and is linked to ADHD polygenic risk.

This study assesses the impact of GWAS on biomedical research publications and finds declining effects on publication rates for newly associated complex disease genes.

The paper develops methods to estimate the historical time course of polygenic scores using coalescent trees, revealing evidence of natural selection on human height.

PRS-on-Spark generates polygenic risk scores efficiently, supporting diverse data inputs and improving variance explained for major depression.

The paper estimates effect-size distributions of SNPs using GWAS summary statistics across 32 traits, revealing polygenic diversity and sample size requirements for heritability explanation.

This paper introduces a new method for detecting marginal epistasis in case-control studies and demonstrates its improved power and type I error control compared to existing approaches.

The paper identifies a genetic change in vgll3 associated with age at maturity in Atlantic salmon, showing sex-specific evolutionary responses and phenotypic effects over 36 years.

The paper shows that polygenic adaptation signals for height are overestimated due to uncorrected population structure in GWAS data.