polygenic risk

Quantification of genetic components of population differentiation in UK Biobank traits reveals signals of polygenic selection

The paper quantifies genetic components of population differentiation in UK Biobank traits to detect polygenic selection signals across geographic gradients.

Schizophrenia risk and reproductive success: A Mendelian randomization study.

This study investigates whether genetic liability for schizophrenia affects reproductive success, finding no significant causal relationship.

Contribution of rare and common variants to intellectual disability in a high-risk population sub-isolate of Northern Finland

The paper investigates the genetic contributions to intellectual disability, finding rare variants are more common in severe cases and common variants contribute to all severity levels.

Sex-specific additive genetic variances and correlations for fitness in a song sparrow (Melospiza melodia) population subject to natural immigration and inbreeding

The paper estimates sex-specific additive genetic variances and correlations for fitness in song sparrows, finding substantial VA in both sexes and moderate cross-sex correlation.

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

Genome-wide association meta-analysis of 130,664 major depression cases and 330,470 controls identifies 44 independent risk loci enriched in cortical neurons, conserved mammalian regions, splicing networks, and antidepressant targets.

Genomic SEM Provides Insights into the Multivariate Genetic Architecture of Complex Traits

Structural equation modeling over GWAS summary statistics fits several traits jointly; across five psychiatric traits it surfaced 27 SNPs the univariate GWASs missed and sharpened polygenic scores.

Efficient management and analysis of large-scale genome-wide data with two R packages: bigstatsr and bigsnpr

The paper introduces two R packages, bigstatsr and bigsnpr, for efficiently managing and analyzing large-scale genomic data within a single framework.

Adaptive landscape of protein variation in human exomes

The paper develops an Evolutionary Probability Approach (EPA) to identify candidate adaptive polymorphisms in human exomes, finding thousands of missense variants likely under beneficial selection.

Genetic risk for schizophrenia influences substance use in emerging adulthood: An event-level polygenic prediction model

This study uses polygenic scores to show that genetic risk for schizophrenia is linked to increased illicit drug use and age-related increases in substance use among young adults.

Improved Estimation Of SNP Heritability Using Bayesian Multiple-Phenotype Models

The paper introduces a Bayesian matrix-variate model to improve SNP heritability estimation by accounting for genetic correlations, showing better performance in small samples.

Genomic risk prediction of coronary artery disease in nearly 500,000 adults: implications for early screening and primary prevention

This paper develops a genomic risk score for coronary artery disease using 1.7 million variants and tests it in UK Biobank, showing it outperforms conventional risk factors in predicting CAD risk.

Patterns of polymorphism, selection and linkage disequilibrium in the subgenomes of the allopolyploid Arabidopsis kamchatica

The paper analyzes polymorphism, selection, and linkage disequilibrium in the subgenomes of Arabidopsis kamchatica, finding reduced purifying selection and increased adaptive substitutions compared to parental species.

Causal associations between risk factors and common diseases inferred from GWAS summary data

This study uses genetic data to identify causal relationships between risk factors and common diseases, finding protective and bidirectional effects.

The Social Genome of Friends and Schoolmates in the National Longitudinal Study of Adolescent to Adult Health

The paper examines genetic similarities between friends and schoolmates using longitudinal health data, finding that social forces contribute to genetic correlation rather than individual selection.

Examining the genetic influences of educational attainment and the validity of value-added measures of progress

This study estimates SNP heritability of educational attainment and value-added measures using UK birth cohort data, finding increasing heritability with age and genetic contributions to some value-added measures.

MTAG: Multi-Trait Analysis of GWAS

MTAG improves GWAS results by combining summary statistics across traits, increasing significant loci and enhancing polygenic score variance.

Polygenic prediction of the phenome, across ancestry, in emerging adulthood

The paper constructs a polygenic risk atlas for 33 traits in emerging adults and finds genetic risks for schizophrenia, neuroticism, and depression predict various phenotypes.

High genetic loading for schizophrenia predicts poor response to lithium in patients with bipolar disorder: A polygenic score and cross-trait genetic analysis

This study finds that a higher genetic risk for schizophrenia is linked to poorer lithium response in bipolar disorder patients, suggesting potential for personalized treatment strategies.

Equivalence of LD-Score Regression and Individual-Level-Data Methods

This paper shows that LDSC regression and individual-level data methods yield similar results under population stratification, but warns that LDSC intercepts can misattribute stratification to heritability estimates.

Pathway-based polygenic risk implicates GO: 17144 drug metabolism in recurrent depressive disorder

The paper uses GWAS data to identify polygenic risk scores for drug metabolism pathways, finding that the GO:17144 pathway is significantly predictive of recurrent depressive disorder.

A machine-learning heuristic to improve gene score prediction of polygenic traitsShort title: Machine-learning boosted gene scores

This paper introduces GraBLD, a machine-learning heuristic that improves polygenic risk scores for height, BMI, and diabetes using summary statistics from large-scale genome-wide studies.

Construction of an exome-wide risk score for schizophrenia based on a weighted burden test

The paper constructs an exome-wide risk score for schizophrenia using a weighted burden test and shows it differs significantly between cases and controls.

The Population Genomics Of Archaeological Transition In West Iberia

The paper analyzes ancient genomic data from Portugal to study genetic changes during the Neolithic to Bronze Age transition, finding limited genetic influx and correlations between ancestry and stature.

Measurement Error Correction of Genome-Wide Polygenic Scores in Prediction Samples

The paper proposes using structural equation modeling to correct genome-wide polygenic scores for measurement error, offering an alternative to instrumental variable approaches.

SNP-based heritability estimation: measurement noise, population stratification, and stability

This paper challenges claims that GCTA cannot reliably estimate heritability, showing errors in the analysis that invalidate those claims.

Polygenic scores via penalized regression on summary statistics

This paper introduces lassosum, a penalized regression method for constructing polygenic scores using summary statistics and a reference panel, showing improved accuracy and efficiency compared to existing methods.

Population size determines the type of nucleotide variations in humans

The paper shows that population size affects the ratio of AT→GC to GC→AT variants, with larger populations having higher ratios due to GC-biased gene conversion.

Conservation of single amino-acid polymorphisms in Plasmodium falciparum erythrocyte membrane protein 1 and association with severe pathophysiology

The paper identifies single amino-acid polymorphisms in PfEMP1 homology blocks associated with severe malaria pathophysiology and disease outcomes.

Mortality Selection in a Genetic Sample and Implications for Association Studies

This study investigates mortality selection in genetic samples and its impact on polygenetic association studies, finding that healthier and more socioeconomically advantaged individuals are more likely to survive and participate, leading to biased estimates.

Human demographic history impacts genetic risk prediction across diverse populations

This study shows that genetic risk scores from European GWAS are biased when applied to other populations due to demographic history, highlighting the need for more diverse data.