David A. van Heel

The genetic architecture of fibromyalgia across 2.5 million individuals

This study identifies 26 risk loci for fibromyalgia through a genome-wide association analysis of 2.5 million individuals, revealing genetic links to neural functions and chronic pain disorders.

Quantifying the contribution of genetic variation to healthcare expenditure across diverse healthcare systems

This study identifies genetic variants associated with healthcare costs across multiple systems, finding polygenic influences and large effects from specific loss-of-function variants.

Proteogenomic origins of disease in British South Asians

This study integrates genetic variation with plasma protein measurements in South Asians to identify pQTLs and build a proteogenomic disease network for understudied populations.

Selection-guided discovery in South Asians implicates the MAPT locus in insulin resistance

The paper integrates positive selection signatures with genetic data to identify metabolically relevant loci in South Asians, finding the MAPT locus associated with insulin resistance.

Multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycaemic traits during pregnancy reveals limited evidence of pregnancy-specific genetic effects

The paper conducts a multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycemic traits, identifying novel loci and highlighting limited pregnancy-specific genetic effects.

The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration

The paper establishes a global consortium to discover rare genetic associations by integrating data from multiple biobanks, identifying 514 gene-trait associations, many detectable only through cross-ancestry meta-analysis.

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity

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.

The contribution of Apoliproprotein E genetic variation to dementia risk in British South Asians

This study assesses the association between APOE genetic variants and dementia risk in British South Asians using healthcare records and genotyping data.

A Genes & Health pilot recall study of intrahepatic cholestasis of pregnancy and cholestatic liver disease

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.

Improving type 2 diabetes polygenic risk scores by incorporating rare, low-frequency, and population-specific variants

This paper improves type 2 diabetes polygenic risk scores by including rare and population-specific variants, showing better risk prediction in diverse populations.

Proteomic and clinical impact of human knockouts in British South Asians

This study examines the proteomic and clinical impact of human knockouts in British South Asians, identifying significant protein under- and over-expression and developing a machine learning model to predict variant benignity.

Limited overlap between genetic effects on disease susceptibility and disease survival

The paper compares genetic effects on disease susceptibility and progression, finding limited overlap and suggesting larger samples or different progression measures are needed.

An ancestry-enriched HNF4A variant and GP2 reveal distinct mechanisms of type 2 diabetes in exome-wide study of 13,674 cases and 41,024 controls

The paper identifies ancestry-specific T2D risk variants in South Asian populations through exome-wide association study and functional validation.

Nanoparticle enriched mass spectrometry proteomics in British South Asians identifies novel variant-protein-disease mechanisms

The paper uses nanoparticle enriched mass spectrometry proteomics in British South Asians to identify novel variant-protein-disease mechanisms through integrative analysis of exome sequencing and proteomic data.

Initial findings from the DecodeME genome-wide association study of myalgic encephalomyelitis/chronic fatigue syndrome

This study conducts a genome-wide association study (GWAS) of ME/CFS, identifying eight genetic loci associated with the disease, suggesting involvement of immune and neurological processes.

Widespread recessive effects on common diseases in a cohort of 44,000 British Pakistanis and Bangladeshis with high autozygosity

The paper identifies 185 genome-wide significant loci associated with common diseases in a cohort of British Pakistanis and Bangladeshis with high autozygosity, focusing on recessive genetic effects.

Genome-wide analyses identify 21 infertility loci and over 400 reproductive hormone loci across the allele frequency spectrum

This study identifies 21 infertility loci and over 400 reproductive hormone loci through GWAS across multiple cohorts, finding limited genetic correlation between reproductive hormones and infertility.

Investigating misclassification of type 1 diabetes in a population-based cohort of British Pakistanis and Bangladeshis using polygenic risk scores

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.

Multi-ancestry GWAS of severe pregnancy nausea and vomiting identifies risk loci associated with appetite, insulin signaling, and brain plasticity

Genomics of chronic cough unravels neurological pathways

This study identifies seven novel genetic loci associated with chronic dry cough and ACEi-induced cough, implicating neurological genes and highlighting potential therapeutic targets.

Genomic and proteomic evidence for hormonal and metabolic foundations of polycystic ovary syndrome

This study identifies 31 plasma proteins and expands genetic loci associated with PCOS, highlighting metabolic and hormonal influences and polygenic risk effects on cardio-metabolic outcomes.

Integrative polygenic risk score improves the prediction accuracy of complex traits and diseases

Cross-trait Elastic Net mixing of PGS Catalog scores (PRSmix+) lifted mean PRS accuracy 1.72-fold in Europeans and 1.42-fold in South Asians over the best single score.

Evaluation of polygenic scoring methods in five biobanks reveals greater variability between biobanks than between methods and highlights benefits of ensemble learning

This study evaluates polygenic scoring methods across five biobanks and finds that biobank differences outweigh method differences, with ensemble learning improving performance.

Influence of autozygosity on common disease risk across the phenotypic spectrum

The paper investigates the association between autozygosity and common diseases in multiple cohorts, finding significant links to twelve diseases and estimating autozygosity's contribution to type 2 diabetes cases.

PIK3R3 is a candidate regulator of platelet count in people of Bangladeshi ancestry

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

Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistanis and Bangladeshis

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.

Multi-ancestry GWAS of major depression aids locus discovery, fine-mapping, gene prioritisation, and causal inference

This paper conducts a multi-ancestry GWAS of major depression, identifying 190 loci and 354 genes, with findings showing increased fine-mapping power and bidirectional BMI relationship in European ancestry samples.

Harnessing the power of polygenic risk scores to predict type 2 diabetes and its subtypes in a high-risk population of British Pakistanis and Bangladeshis in a routine healthcare setting

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.

Fine-scale population structure and demographic history of British Pakistanis

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.

Joint analysis reveals shared autoimmune disease associations and identifies common mechanisms

The paper improves genetic mapping resolution in autoimmune diseases by identifying shared alleles across multiple conditions and reveals widespread shared mechanisms.