polygenic risk

This study constructs a polygenic protective score for Alzheimer's disease and finds stronger genetic protection against AD in centenarians compared to non-longevity individuals.

Mixture modeling of 239 phenotype features in 5,392 SPARK autistic children defines four replicable classes carrying distinct common and rare variant signatures and developmental gene-timing patterns.

The paper develops pathway-specific polygenic scores to predict lithium treatment response in bipolar disorder and finds associations with specific biological pathways.

This study evaluates how data representation bias and distribution shifts affect multi-population machine learning performance using synthetic genotype-phenotype datasets across five continental populations.

This paper develops a multi-Polygenic Risk Score (multiPRS) to predict diabetes complications in different ethnic groups, finding that logistic regression with Mondrian Cross-Conformal Prediction improves prediction accuracy in non-European populations.

MIXPRS improves multi-population polygenic risk score prediction by integrating GWAS summary statistics without individual-level data, outperforming existing methods across multiple traits and populations.

This study identifies genetic variants influencing brain geometry using GWAS on Laplace-Beltrami spectrum eigenvalues from UK Biobank data.

This study shows natural selection reduces the accuracy of polygenic scores in predicting traits from ancient humans by altering genetic variation patterns.

GXwasR provides tools for sex-aware genetic analysis in GWAS and XWAS, enabling sex-differentiated effects and polygenic risk scores.

The paper identifies nine neuroimaging endophenotypes linked to genetic loci and shows they improve prediction of systemic diseases and mortality.

This paper introduces polygenic component scores derived from genomICA components to link brain imaging genetics to diverse phenotypes, showing they predict physical and cognitive traits but not mental health outcomes.

This study identifies polygenic modifiers of expressivity in telomere biology disorders by showing how common and rare genetic variants interact to influence clinical variability.

This study evaluates deep-learning methods for improving polygenic scores, finding limited benefits due to confounding effects from linkage disequilibrium.

This study uses population genomics to guide coral reef restoration by analyzing genetic diversity and connectivity in staghorn corals in Micronesia, identifying key populations for conservation and restoration strategies.

This paper introduces efficient algorithms for polygenic score inference using large-scale genetic data, achieving significant improvements in speed, memory use, and cross-population transferability.

The paper develops a polygenic score for dizygotic twinning, showing it explains 1.6% of liability variance and is linked to fertility outcomes and genetic correlations with related conditions.

The paper evaluates the contribution of expression, splicing, and protein QTL in blood to SNP-based heritability and polygenic prediction across 27 traits, finding they capture significant portions of genetic variation.

The paper analyzes how SNP heritability estimates are affected by admixture and directional LD, showing biases in random-effect estimators and implications for GWAS and polygenic prediction.

This study uses genome data from 35 bird species to show that long-distance migration promotes genetic diversity and spatial genetic structure due to philopatry, not dispersal.

This study identifies 1,257 genetic variants associated with human personality traits using large-scale GWAS and finds widespread genetic correlations with behaviors and life outcomes.

VADEr, a Vision Transformer-inspired framework, improves polygenic risk prediction for prostate cancer by capturing genetic interactions and revealing heterogeneity through DARTH scores.

The paper examines reproductive and cognitive effects in carriers of recessive pathogenic variants using UK Biobank data, finding fitness effects and reduced cognition in carriers of intellectual disability-associated genes.

This study assesses the progress and limitations of polygenic risk score prediction accuracy for common diseases, showing diminishing returns from recent GWAS and highlighting the need for broader variant coverage.

The paper updates a polygenic index repository with more phenotypes, datasets, and improved causal inference methods, enhancing predictive performance and interpretability.

JointPRS improves genetic risk prediction for non-European populations by integrating genetic correlation and multi-population data without individual-level tuning data.

This study identifies polygenic adaptation in Dianthus sylvestris to soil conditions during postglacial range expansion, showing pleiotropy and soil heterogeneity influence genetic variation.

HiFiCCL improves ultra-low-coverage genome assembly using high-fidelity long-reads, enhancing structural variant detection and pangenome construction in human and plant datasets.

This paper develops a method to protect polygenic score association tests from confounding by ancestry variation using a new approach to estimate population structure.

This study uses polygenic scores to predict impulsivity and substance use in adolescents, finding age-related changes in genetic associations and highlighting caffeine as an early risk factor.

The paper identifies candidate loci for reproductive isolation in Torrey pine populations using GWAS and ddRADseq, finding SNPs associated with growth and fitness that may contribute to reproductive barriers.