Claudia Langenberg

Genetic decoding reveals druggable biology implicitly learned by a medical-history foundation model

The paper uses genome-wide association testing on embeddings from a medical-history foundation model to identify genetic signals linked to biological pathways and drug targets.

Massively parallel characterization and predictive modelling of neuronal regulatory variation

The paper characterizes regulatory variants in human neurons using lentiMPRA and shows that variant effects are influenced by regulatory element activity and sequence context, not population frequency.

A genomic-led strategy to anticipate drug safety effects

The paper uses Mendelian Randomization to predict adverse drug reactions by linking genetic variants to gene expression and protein abundance across large datasets.

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.

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.

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.

Leveraging Large-Scale Biobanks for Therapeutic Target Discovery

This study uses large biobanks to identify gene-trait pairs with causal evidence, rediscover approved drug targets, and develop a predictive model for drug development.

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.

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.

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.

Genetic mechanisms of 184 neuro-related proteins in human plasma

The paper identifies genetic regulators of 184 neuro-related proteins in human plasma and links them to disease traits and drug targets.

Complex patterns of multimorbidity associated with severe COVID-19 and Long COVID

The paper identifies 679 diseases associated with increased risk for severe COVID-19 and Long COVID using UK Biobank health records, highlighting complex multimorbidity patterns and genetic risk loci.

Identifying therapeutic targets for cancer: 2,094 circulating proteins and risk of nine cancers

This study identifies 40 circulating proteins associated with cancer risk using MR and colocalization, highlighting potential therapeutic targets and adverse effects of protein-altering interventions.

Damaging mutations in LXRα uncouple lipogenesis from hepatotoxicity and implicate hepatic cholesterol sensing in human liver health

This study identifies damaging LXRα mutations linked to reduced triglycerides but increased liver enzyme levels and hepatotoxicity, suggesting LXR's role in liver health and cautioning against its inhibition for MASLD treatment.

The performance of AlphaMissense to identify genes causing disease

This study evaluates AlphaMissense's impact on gene-based testing for disease causation using UK Biobank exome data, finding no significant improvement in identifying disease-causing genes.

Similar and different: systematic investigation of proteogenomic variation between sexes and its relevance for human diseases

The paper investigates sex differences in the genetic regulation of the plasma proteome and finds most genetic effects are similar between sexes, with few sex-differential effects that do not translate to disease risk.

Genome-wide association analysis and Mendelian randomization proteomics identify novel protein biomarkers and drug targets for primary prevention of heart failure

This study identifies novel genetic risk variants and potential drug targets for heart failure using GWAS and Mendelian randomization proteomics.

Lowering of circulating sclerostin may increase risk of atherosclerosis and its risk factors: evidence from a genome-wide association meta-analysis followed by Mendelian randomization

This study uses GWAS and Mendelian randomization to show that lower sclerostin levels increase risk of hypertension, type 2 diabetes, myocardial infarction, and atherogenic lipid profiles.

An atlas of genetic scores to predict multi-omic traits

The paper develops genetic scores for 17,227 molecular traits using multi-omic data from INTERVAL and validates them across ancestries, demonstrating their utility in pathway analysis and disease association discovery.

Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus.

This study identifies 43 genomic loci associated with reproductive success in 785,604 individuals, showing ongoing natural selection at the FADS locus.

From genome to phenome via the proteome: broad capture, antibody-based proteomics to explore disease mechanisms

The paper uses antibody-based proteomics to identify disease-causing genes and proteins by analyzing plasma proteome data from 1,180 individuals, finding new gene-protein-disease links and improving causal gene assignment in GWAS loci.

ELF5 is a respiratory epithelial cell-specific risk gene for severe COVID-19

This study identifies ELF5 as a risk gene for severe COVID-19 using genetic and single-cell expression data, showing its specific expression in respiratory epithelial cells.

Transcriptional, epigenetic and metabolic signatures in cardiometabolic syndrome defined by extreme phenotypes.

The paper identifies molecular and metabolic signatures of cardiometabolic syndrome using extreme phenotype groups and shows changes after bariatric surgery.

Performance of polygenic risk scores in screening, prediction, and risk stratification

This study evaluates polygenic risk scores for population screening, individual risk prediction, and risk stratification, finding poor performance across all three applications.

Genetic associations and architecture of asthma-chronic obstructive pulmonary disease overlap

This study identifies eight novel genetic signals associated with asthma-COPD overlap through a genome-wide association analysis involving multiple cohorts.

Identification of rare loss of function variation regulating body fat distribution

This study identifies rare loss of function variants in four genes associated with beneficial changes in body fat distribution using genome-wide and exome-sequence data from UK Biobank.

Mapping genetic determinants of 184 circulating proteins in 26,494 individuals to connect proteins and disease.

This study identifies 592 genetic loci associated with 184 plasma proteins in 26,494 individuals and finds causal relationships between protein levels and disease.

Random glucose GWAS in 493,036 individuals provides insights into diabetes pathophysiology, complications and treatment stratification

This study performs a GWAS on random glucose measurements in 493,036 individuals, identifying 128 loci associated with glycaemic traits and providing insights into diabetes biology and treatment.

Cross-platform proteomics to advance genetic prioritisation strategies

The paper compares pQTLs across two proteomic platforms, finding shared and platform-specific pQTLs and identifying factors contributing to platform differences.