Robert J. Carroll

The paper performs large-scale GWAS and RVAS on 392,030 whole genomes from All of Us, identifying 49,863 associations and 193 novel pLoF gene-phenotype links through meta-analysis with UK Biobank.

The paper explores using FHIR to integrate genomic research data from multiple repositories and evaluates its effectiveness for structured data representation and aggregation.

Population-stratified GWAS of 2,068 traits in 635,969 Million Veteran Program participants, 29% genetically non-European, yields 98,485 associations and 57,601 fine-mapped signals with largely shared cross-population architecture.

The paper introduces a phenotype-genotype reference map for replicating GWAS results in biobank data and demonstrates its utility in detecting data corruption and assessing reproducibility.

The paper describes AnVIL, a cloud-based platform that enables genomic data analysis without data transfer, improving security, scalability, and collaboration.

This study conducts a trans-ancestry GWAS of rheumatoid arthritis, identifying 124 loci, 34 novel, and shows improved polygenic risk score performance across populations.

This study develops a polygenic and phenotypic risk score for PCOS using EHR data, showing improved detection and identifying shared metabolic and endocrine comorbidities.

The paper develops and evaluates mappings from ICD-10 and ICD-10-CM codes to PheCodes, showing high coverage and reproducibility for chronic diseases.

The paper links genetic variation to pathogen-induced cellular traits and disease by integrating GWAS data with clinical and experimental validation.