polygenic risk

Structural variants contribute substantially to complex trait heritability

The paper quantifies the contribution of structural variants to complex trait heritability using MiXeRSV, finding SVs explain up to 32% of heritability in some traits.

SPLENDID incorporates continuous genetic ancestry in biobank-scale data to improve polygenic risk prediction across diverse populations

SPLENDID improves polygenic risk prediction across diverse populations by incorporating continuous genetic ancestry without requiring discrete ancestry labels.

Hypertrophic cardiomyopathy: a genome wide association meta-analysis and polygenic risk score

This paper identifies novel genetic loci for hypertrophic cardiomyopathy through GWAS and develops a polygenic risk score associated with HCM diagnosis and outcomes.

Genetic architectures of brain-related traits are shaped by strong selective constraints

The paper compares genetic architectures of brain-related traits and finds they have weaker associations and stronger selection pressures compared to other traits.

Genome-wide association study of corneal dystrophy uncovers novel risk loci and enables improved polygenic prediction of Fuchs endothelial corneal dystrophy

This paper identifies 24 risk loci for corneal dystrophy, constructs polygenic risk scores (PRS) and STR-based models, and shows PRS improves FECD prediction, while STR expansion is the strongest predictor.

Rare variant effect estimation and polygenic risk prediction

This paper introduces RareEffect, a method for estimating rare variant effects and improving polygenic risk prediction using UK Biobank whole exome sequencing data.

Estimating genetic correlation jointly using individual-level and summary-level GWAS data

This paper introduces GENJI, a method to estimate genetic correlation using both individual-level and summary-level GWAS data, improving accuracy and efficiency over existing methods.

A multi-ancestry polygenic risk score for body mass index predicts longitudinal weight change

This paper develops a multi-ancestry polygenic risk score for BMI that predicts longitudinal weight change and shows strong associations across diverse genetic ancestries.

Cross-Ancestry Polygenic Risk Scores Enhance Alzheimer's Disease Risk Prediction in Multiethnic Cohorts

This paper evaluates cross-ancestry polygenic risk scores (PRS) for Alzheimer's disease across multi-ethnic populations, finding improved predictive accuracy in non-European groups.

Improving performance of polygenic risk scores for hypertension across two ancestry groups.

This paper compares two Bayesian methods for polygenic risk scores (PRS) for hypertension across two ancestry groups, finding improved performance with updated LD panels and functional annotations, but not equitable results between groups.

Genetic diversity and conservation insights for the baobab Adansonia suarezensis in northern Madagascar: a whole genome SNP analysis

This study analyzes the genetic structure and diversity of A. suarezensis populations using SNP data, revealing genetic differentiation and inbreeding patterns with conservation implications.

Whole-genome sequencing of 197 cases with Parkinson's Disease reveals novel pathogenic variants in the Indian population

The paper performs whole-genome sequencing on Parkinson's Disease cases in India to identify novel pathogenic variants and quantify polygenic risk.

Within-family attenuation of polygenic risk score accuracy: Investigating the effects of principal component analysis, LD score regression, and mixed model association in the UK Biobank

This study evaluates how population structure adjustment methods affect polygenic risk score performance in within-family settings using UK Biobank data.

Improved heritability partitioning and enrichment analyses using summary statistics with graphREML

This paper introduces graphREML, a likelihood-based method for heritability partitioning and enrichment analysis using GWAS summary statistics, showing greater power than S-LDSC.

Polygenic risk scores for incident dementia in the Multi-Ethnic Study of Atherosclerosis

The paper evaluates polygenic risk scores for dementia prediction in diverse populations, finding that a model with fewer SNPs outperforms one with more SNPs in multiple ethnic groups.

De novo Genome Assemblies of Four Rainbow Trout Genetic Lines Reveal Structural Variants In Pursuit of a Pangenome Reference

The paper presents de novo genome assemblies of four rainbow trout lines to identify structural variants and build a pangenome reference for studying domestication and adaptation.

Genomic Population Structure of the Sunda Pangolin (Manis javanica) in Thailand: Implications for Conservation and Wildlife Forensics

This study analyzes whole genome sequences of Sunda pangolins in Thailand to identify genetic populations and diversity, informing conservation and forensic tools.

Estimation of Direct and Indirect Polygenic Effects and Gene-Environment Interactions using Polygenic Scores in Case-Parent Trio Studies

This paper introduces PGS-TRI, a framework to estimate direct and indirect polygenic effects and gene-environment interactions in case-parent trio studies, applied to autism and orofacial clefts.

An Efficient Lasso Framework for Admixture-Aware Polygenic Scores

HAUDI improves polygenic score construction for admixed populations by efficiently extending the GAUDI method to multi-way admixture with faster computation and better performance.

Heterogeneous endocrine cell composition defines human islet functional phenotypes

In 299 islet preparations from donors without diabetes, endocrine cell composition, not donor demographics, tracked insulin secretion, and δ cell percentage rose with type 2 diabetes genetic risk.

Low genetic diversity in Colobus vellerosus populations in Kikele Sacred and Okuta Kobunan Forests, Benin

The study analyzes genetic diversity in two small populations of Colobus vellerosus in Benin using mitochondrial markers, finding very low diversity due to a potential genetic bottleneck.

Evaluating a Genome-Wide Polygenic Score for Handgrip Strength and Its Interplay with Leisure-Time Physical Activity Across the IGEMS Twin Cohorts

The paper evaluates a polygenic score for handgrip strength and its interaction with physical activity across twin cohorts, finding a significant genetic association and effect modification by physical activity.

Multi-ancestry polygenic risk scores for the prediction of type 2 diabetes and complications in diverse ancestries.

This paper develops and validates multi-ancestry polygenic risk scores for type 2 diabetes prediction and complications across diverse populations.

Ancient regulatory evolution shapes individual language abilities in present-day humans

Polygenic score variants in HAQERs (Human Ancestor Quickly Evolved Regions, <0.1% of the genome) predict spoken language but not nonverbal IQ; language associations replicate in SPARK, ABCD and UK Biobank.

SPrUCE: Utilizing Ultraconserved Elements of DNA for Population-Level Genetic Diversity Estimation

SPrUCE estimates genetic diversity from UCE data by correcting underestimation bias using a Gompertz function model, providing accurate results comparable to whole-genome methods.

Explicitly modeling genetic ancestry to improve polygenic prediction accuracy for height in a large, admixed cohort of US Latinos: Findings from HCHS/SOL

This paper improves polygenic prediction of height in an admixed Latino cohort by incorporating genetic ancestry, achieving a 0.1 increase in R² compared to using polygenic scores alone.

Mosaic Loss of Y chromosome associates with lung function, emphysema and epigenetic aging

This study investigates the association between mosaic loss of Y chromosome (mLOY) and lung function, emphysema, and epigenetic aging in men across multiple cohorts.

A simple approach for multiple observations improves power to detect genetic effects and genomic prediction accuracy.

This paper shows that using the mean or median of multiple observations improves GWAS power and polygenic prediction accuracy by reducing phenotypic noise.

Leveraging pleiotropy to improve genetic risk prediction across diseases

This paper improves genetic risk prediction across diseases by developing multi-trait polygenic scores that integrate GWAS data and show better performance than single-trait scores.

Quantifying annotation-stratified pleiotropy and co-polygenicity between complex traits

This paper introduces SBayesAPP, a Bayesian model that estimates annotation-stratified pleiotropy and co-polygenicity between complex traits using GWAS summary statistics, revealing cell-type-specific genetic correlations.