Kathryn E. Kemper

Pitfalls in estimating and interpreting the contribution of ultra-rare genetic variants to the heritability of complex traits

The paper identifies biases in estimating heritability from ultra-rare variants and shows that accounting for these biases reveals significant heritability estimates for several traits.

Distinct genetic profiles influence body mass index between infancy and adolescence

This study identifies age-varying genetic contributions to BMI using longitudinal data from the ALSPAC cohort, showing distinct genetic profiles in infancy versus later childhood and adolescence.

A parsimonious model for mass-univariate vertex-wise analysis

The paper compares GLM and LMM approaches for mass-univariate vertex-wise analysis, showing LMMs reduce false positives and cluster size but increase computation.

Widespread associations between grey matter structure and the human phenome

This paper identifies 58 significant associations between grey matter structure and diverse human phenotypes using large neuroimaging datasets and shows body size factors explain part of these associations.

Genome-wide association study identifies 143 loci associated with 25 hydroxyvitamin D concentration.

This study identifies 143 genetic loci associated with 25 hydroxyvitamin D concentration in Europeans, revealing biological pathways and causal relationships with health outcomes.

A resource-efficient tool for mixed model association analysis of large-scale data

fastGWA is a resource-efficient mixed model tool for GWAS that addresses population stratification and relatedness in large biobank datasets.

Improved polygenic prediction by Bayesian multiple regression on summary statistics

This paper introduces SBayesR, a Bayesian method for polygenic prediction using GWAS summary statistics, achieving higher accuracy and efficiency than existing methods.

Genetic Consequences of Social Stratification in Great Britain

The paper examines genetic clustering of complex traits and disease risk in Great Britain, finding that socio-economic status influences allele distribution and regional outcomes.

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

Genotype-by-environment interactions inferred from genetic effects on phenotypic variability in the UK Biobank

The paper identifies genetic variants associated with phenotypic variability and shows they exhibit genotype-by-environment interactions for obesity-related traits using UK Biobank data.

The effect of X-linked dosage compensation on complex trait variation

The paper examines how X-linked dosage compensation affects genetic variation in complex traits, finding more genetic variation in males than females for X-linked loci.

Genetic analyses of medication-use and implications for precision medicine

This study performs GWAS on medication-use data from 320,000 UK Biobank participants, identifying 505 genetic loci and linking them to 16 known therapeutic targets.

Imprint of Assortative Mating on the Human Genome

The paper quantifies assortative mating on complex traits by analyzing SNP data from 400,000 individuals, finding significant evidence for height and educational attainment.

Meta-analysis of genome-wide association studies for height and body mass index in ~700,000 individuals of European ancestry

This paper performs a meta-analysis of GWAS for height and BMI in 700,000 individuals, identifying 3,290 and 716 SNPs, with increased prediction accuracy.

Novel susceptibility loci and genetic regulation mechanisms for type 2 diabetes

This study identifies 139 common and 4 rare genetic variants associated with type 2 diabetes through GWAS and integrates gene expression and epigenomic data to highlight potential functional genes and regulatory mechanisms.

Higher genetic risk for schizophrenia is associated with living in urban and populated areas

The paper finds a genetic association between schizophrenia risk and urban living, suggesting genetic factors influence migration to densely populated areas.

Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood

The paper identifies gene targets for brain-related traits using transcriptomic and methylomic data from blood, finding strong correlations between genetic effects in brain and blood tissues.

Comparison of Genotypic and Phenotypic Correlations: Cheveruds Conjecture in Humans

This study supports Cheveruds conjecture by showing genetic correlations in humans predict phenotypic correlations across independent samples.