Benjamin Elsworth

The paper introduces VCF Zarr, a format for efficiently storing and processing large-scale genetic variation data, demonstrating improved performance and scalability over traditional VCF formats.

The paper maps human traits from UK Biobank to the Experimental Factor Ontology using language models, finding BioSentVec and BlueBERT-EFO perform best.

This study uses multi-ancestry Mendelian randomization to identify six protein targets for COVID-19 severity, showing ancestry-specific effects.

This study uses Mendelian randomization to compare the effects of lipid-modifying drug targets on CAD risk and blood metabolome traits across 115,082 UK Biobank participants.

The paper introduces GWAS-VCF, a variant call format for GWAS summary statistics, showing it is faster and more robust than tabular formats for data extraction and analysis.

EpiGraphDB is a graph database and analytical platform for health data science, demonstrating its utility through case studies on pleiotropy, drug targets, and causal inference.

This paper uses Mendelian randomization and colocalization to identify causal relationships between plasma proteins and disease phenotypes, finding 111 putatively causal effects.

OpenGWAS serves 14582 harmonised, complete GWAS summary datasets (125.8 billion associations) via API, R/Python clients and GWAS-VCF downloads, with glue code for Mendelian randomization, colocalisation and fine-mapping.

This paper uses Mendelian Randomization to show that higher circulating sclerostin levels causally reduce bone mineral density and increase fracture risk.

PhenoSpD estimates phenotypic correlations and corrects multiple testing using GWAS summary statistics, reducing dimensionality for complex traits.

MELODI identifies mechanistic pathways between biomedical concepts by mining literature, generating hypotheses for further investigation.

LD Hub provides a centralized database and web interface for performing LD score regression on GWAS summary data to estimate SNP heritability and genetic correlations across traits.