John Wright

The paper performs whole exome sequencing on 44,028 British South Asians to identify gene-phenotype associations and knockout genes, finding novel links and implications for drug development.

This pilot study identifies British South Asians at high risk of cholestatic liver disease through genetic and phenotypic recall, finding 66.7% of participants had undetected liver disease.

This study identifies cell type-specific DNA methylation associations with childhood ADHD symptoms using deconvolution and sequencing-based methylation data from peripheral and cord blood.

This study estimates that ~6% of insulin-treated diabetic individuals with ambiguous features in British Pakistanis and Bangladeshis have T1D, highlighting the need for autoantibody and C-peptide testing.

This study identifies genetic variants associated with urinary phthalate metabolite levels in children through GWAS and CNV analysis.

The paper identifies PIK3R3 as a candidate regulator of platelet count in Bangladeshi ancestry individuals through GWAS and functional analysis.

This study finds that a type 2 diabetes polygenic risk score is strongly associated with gestational diabetes-related traits in South Asian women, accounting for a significant portion of the population attributable fraction.

This study assesses the transferability of genetic loci and polygenic scores for cardiometabolic traits from European-ancestry samples to British Pakistanis and Bangladeshis, finding high transferability for most loci but variable performance for polygenic scores.

This paper constructs a type 2 diabetes polygenic risk score for British Pakistanis and Bangladeshis, integrates it with a clinical tool to improve risk prediction, and identifies genetic differences between disease subgroups.

This paper identifies 39,749 autosomal cis-eQTMs in children's blood using HELIX data, showing most are near genes and many have genetic variants associated with methylation and expression.

This study examines the population structure and demographic history of British Pakistanis, revealing strong recent structure and low effective population sizes due to endogamy and consanguinity.

The paper identifies genetic variants influencing DNA methylation in blood and shows their associations with complex traits and diseases, but finds limited direct causality.

This study identifies 137 genome-wide significant loci associated with DNA methylation biomarkers of ageing using DNAm and SNP data from over 41,000 individuals.

The paper identifies a healthy individual with complete HAO1 knockout, showing normal oxalate levels but elevated glycolate, supporting the safety of HAO1 inhibition for PH1 therapy.

The paper analyzes genetic variants at the PCSK9 locus to assess their phenotypic effects on lipid levels and disease outcomes, finding concordance with PCSK9 inhibitor trials for myocardial infarction but discordance for type 2 diabetes.

ELGH is a population genomics study of British-Bangladeshi and British-Pakistani people in east London, combining health records with genetic data to study disease and genetic influences.

The paper estimates the human mutation rate using autozygous segments from 3,222 British-Pakistani individuals, finding a lower mutation rate than previous estimates and population-specific mutational patterns.

The paper estimates the health effects of rare gene knockouts in adults by analyzing exome sequencing data and health records, finding no significant disease associations.