Richard Border

Inferring Protein Variant Impacts Across Contexts

The paper evaluates imputation methods for contextual variant effects in MAVE studies, finding that method choice depends on data density and task requirements.

The relationship between genotype- and phenotype-based estimates of genetic liability to psychiatric disorders, in practice and in theory.

The paper shows genotype- and phenotype-based genetic instruments explain largely independent components of liability to psychiatric disorders, supported by theoretical analysis and simulations.

Comprehensive gene heritability estimation reveals the genetic architecture of rare coding variants underlying complex traits

This paper introduces FLEX, a method for estimating gene-level heritability from whole-exome sequencing data, showing rare coding variants contribute significantly to complex trait heritability.

The geometry of G x E: how scaling and endogenous treatment effects shape interaction direction

This paper identifies how outcome scaling and endogenous treatment effects create spurious gene-environment interactions and proposes a diagnostic to detect these artifacts.

Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions

The paper investigates why carriers of pathogenic variants in monogenic metabolic conditions show variable disease severity, finding support for variant effect sizes, polygenic backgrounds, and epistasis.

Characterizing the genetic architecture of drug response using gene-context interaction methods

This study quantifies the heritability of drug response to statins, metformin, warfarin, and methotrexate in UK Biobank participants and identifies genetic modifiers of drug effects and side effects.

Identifying novel genetic and phenotypic associations to genomic features by leveraging off-target reads in exome sequencing data

The paper uses unmapped reads from whole-exome sequencing data in the UK BioBank to construct features and identify 21 novel genetic loci associated with immune-related traits.

Simple models of non-random mating and environmental transmission bias standard human genetics statistical methods

The paper evaluates the impact of non-random mating and environmental transmission on genetic methods and introduces a simulation tool to improve robustness.

Family-GWAS reveals effects of environment and mating on genetic associations

Family-based GWAS meta-analysis of 34 phenotypes shows standard GWAS effects carry sizeable confounding uncorrelated with direct genetic effects, while assortative mating likely inflates SNP heritability and genetic correlations.

Cross-trait assortative mating is widespread and inflates genetic correlation estimates

This paper shows that cross-trait assortative mating explains genetic correlations between traits, suggesting many reported genetic similarities may be overestimated.

rBahadur: Efficient simulation of high-dimensional genotype data with global dependence structures

The paper introduces rBahadur, an efficient algorithm for simulating high-dimensional genotype data with assortative mating effects using the Bahadur order-2 approximation.

Phenotype integration improves power and preserves specificity in biobank-based genetic studies of MDD

This paper improves genetic studies of MDD by integrating shallow and deep phenotypes, enhancing GWAS power and PRS accuracy while preserving specificity.

Assortative Mating Biases Marker-based Heritability Estimators

The paper shows that marker-based heritability estimators are biased under assortative mating and proposes corrected estimators for traits under equilibrium assortative mating.

Genetic Association Study of Childhood Aggression across raters, instruments and age

This study conducts a genome-wide association meta-analysis of childhood aggression across multiple raters, instruments, and ages, identifying genetic correlations with various traits but no genome-wide significant SNPs.

Little Evidence of Modified Genetic Effect of rs16969968 on Heavy Smoking Based on Age of Onset of Smoking

The paper replicates main effects of rs16969968 and age of smoking onset on smoking quantity but fails to replicate their interaction effect.

Stochastic Lanczos estimation of genomic variance components for linear mixed-effects models

This paper introduces two new algorithms for faster REML estimation in linear mixed-effects models used in GWAS, showing they are faster and more accurate than existing methods.

Imputation of Behavioral Candidate Gene Repeat Polymorphisms in 486,551 Publicly-Available UK Biobank Individuals.

The paper imputes four VNTR polymorphisms and one modifying SNP into 486,551 UK Biobank individuals, enabling rigorous testing of their association with psychiatric phenotypes.