Laurence J Howe

Transportability of mouse gene knockout models to human complex phenotypes

The paper assesses the transportability of mouse gene knockout models to human complex phenotypes using GPAT framework, finding evidence for 12 phenotypes but limited for others.

GWAS of Extended Prescription Analgesic Use Identifies Novel Genetic Loci in Chronic Pain

This study uses prescription analgesic use data to identify 140 genetic associations with chronic pain, including 78 novel loci, and suggests new biological mechanisms.

Evaluating transportability of in-vitro cellular models to in-vivo human phenotypes using gene perturbation data

The paper evaluates the transportability of in-vitro gene perturbation models to in-vivo human phenotypes using CRISPR data and UK Biobank, finding some models are predictive while others are not.

The genetic architecture of gene expression in individuals of African and European ancestry

This study compares eQTL discovery in African and European ancestry cohorts, finding more eQTLs in African samples and improved GWAS variant-to-gene mapping using African eQTLs.

Small-cohort GWAS discovery with AI over massive functional genomics knowledge graph

KGWAS improves GWAS power in small cohorts by integrating a functional knowledge graph, discovering more associations for rare diseases.

Taller height and risk of coronary heart disease and cancer: a within-sibship Mendelian randomization study

This study uses within-sibship Mendelian randomization to show taller height reduces coronary heart disease risk but increases cancer risk, likely due to causal effects rather than confounding factors.

Assortative mating and within-spouse pair comparisons

The paper evaluates the WSP model for reducing confounding in epidemiological studies, finding it susceptible to collider bias from assortative mating and attenuating genetic associations for traits like height and education.

Within-sibship GWAS improve estimates of direct genetic effects

In 159,701 siblings from 17 cohorts, population GWAS overstate direct effects on height, education, smoking, cognition, depressive symptoms and age at first birth; clinical traits mostly agree across models.

Within-family studies for Mendelian randomization: avoiding dynastic, assortative mating, and population stratification biases

This paper introduces within-family Mendelian randomization methods to reduce biases from family structure and shows they yield different results compared to population-based analyses.

Association of polygenic risk scores for coronary artery disease with subsequent events amongst established cases

This study evaluates how polygenic risk scores for coronary artery disease (CAD) relate to future events in individuals with and without CAD, finding attenuated or inverse associations in established cases.

Cleft lip/palate and educational attainment: cause, consequence, or correlation? A Mendelian randomization study

This study investigates whether genetic liability to non-syndromic cleft lip/palate influences educational attainment and intelligence, finding little evidence of shared genetic causation.

Novel genetic loci affecting facial shape variation in humans

This study identifies 24 genetic loci associated with facial shape variation in humans through GWAS and confirms 13 of them in a multi-ethnic cohort.

Alcohol consumption and mate choice in UK Biobank: comparing observational and Mendelian randomization estimates

This study examines the relationship between alcohol consumption and mate selection using UK Biobank data, finding that genetic variants associated with alcohol use influence partner selection.

DNA methylation mediates genetic liability to non-syndromic cleft lip/palate

The paper identifies three loci where genetic liability to non-syndromic cleft lip/palate may be mediated by DNA methylation variation in blood and tissue.

Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology

The paper investigates genetic overlap between non-syndromic cleft lip/palate and facial morphology using polygenic risk scores and Mendelian randomization, finding a causal relationship with philtrum width.

Y chromosome and mitochondrial DNA haplogroups across behavioural traits in children from the general population

The paper examines the association between Y chromosome and mitochondrial DNA haplogroups and behavioural traits in children, finding no significant associations.