Robert J. Carroll
A5040973863- Genetic Associations and Epidemiology
- Biomedical Text Mining and Ontologies
- Proteins in Food Systems
- Meat and Animal Product Quality
- Genomics and Rare Diseases
- Systemic Lupus Erythematosus Research
- Renal Diseases and Glomerulopathies
- Machine Learning in Healthcare
- Bioinformatics and Genomic Networks
- Scientific Computing and Data Management
- Collagen: Extraction and Characterization
- 3D IC and TSV technologies
- Rheumatoid Arthritis Research and Therapies
- X-ray Diffraction in Crystallography
- Chronic Kidney Disease and Diabetes
- Electronic Health Records Systems
- Crystallization and Solubility Studies
- Gene expression and cancer classification
- Silk-based biomaterials and applications
- Epigenetics and DNA Methylation
- Protein Hydrolysis and Bioactive Peptides
- Research Data Management Practices
- Health, Environment, Cognitive Aging
- Artificial Intelligence in Healthcare
- Infant Nutrition and Health
Vanderbilt University Medical Center
2016-2024
Vanderbilt University
2013-2024
Novavax (United States)
2024
Syracuse University
2020-2023
Międzyleski Szpital Specjalistyczny w Warszawie
2023
Florida State University
2019
SUNY Polytechnic Institute
2015-2019
Vanderbilt Health
2016
University at Albany, State University of New York
2014
Pfizer (United Kingdom)
2010-2012
Background The phecode system was built upon the International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) for phenome-wide association studies (PheWAS) using electronic health record (EHR). Objective goal this paper to develop and perform an initial evaluation maps from 10th Revision (ICD-10) (ICD-10-CM) codes phecodes. Methods We mapped ICD-10 ICD-10-CM phecodes a number methods resources, such as concept relationships explicit mappings Centers Medicare...
Summary: Phenome-wide association studies (PheWAS) have been used to replicate known genetic associations and discover new phenotype for variants. This PheWAS implementation allows users translate ICD-9 codes case control groups, perform analyses using these and/or other phenotypes with covariate adjustments plot the results. We demonstrate methods by replicating a on rs3135388 (near HLA-DRB, associated multiple sclerosis) performing novel an individual’s maximum white blood cell count (WBC)...
To compare three groupings of Electronic Health Record (EHR) billing codes for their ability to represent clinically meaningful phenotypes and replicate known genetic associations. The tested coding systems were the International Classification Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes, Agency Healthcare Research Quality Software ICD-9-CM (CCS), manually curated "phecodes" designed facilitate phenome-wide association studies (PheWAS) in EHRs.We selected 100 disease...
Abstract Comprehensively mapping the genetic basis of human disease across diverse individuals is a long-standing goal for field genetics 1–4 . The All Us Research Program longitudinal cohort study aiming to enrol group at least one million USA accelerate biomedical research and improve health 5,6 Here we describe programme’s genomics data release 245,388 clinical-grade genome sequences. This resource unique in its diversity as 77% participants are from communities that historically...
Objectives Electronic health records (EHR) can allow for the generation of large cohorts individuals with given diseases clinical and genomic research. A rate-limiting step is development electronic phenotype selection algorithms to find such cohorts. This study evaluated portability a published algorithm identify rheumatoid arthritis (RA) patients from EHR at three institutions different systems.
Genetic association studies often examine features independently, potentially missing subpopulations with multiple phenotypes that share a single cause. We describe an approach aggregates on the basis of patterns described by Mendelian diseases. mapped clinical 1204 diseases into captured from electronic health record (EHR) and summarized this evidence as phenotype risk scores (PheRSs). In initial validation, PheRS distinguished cases controls five Applying to 21,701 genotyped individuals...
There is an urgent need for biomarkers to better stratify patients with idiopathic pulmonary fibrosis by risk lung transplantation allocation who have the same clinical presentation. We aimed investigate whether a specific immune cell type from could identify those at higher of poor outcomes. then sought validate our findings using cytometry and electronic health records.
The effect of glucocorticoids on major kidney outcomes and adverse events in IgA nephropathy has been uncertain.To evaluate the efficacy effects methylprednisolone patients with at high risk function decline.An international, multicenter, double-blind, randomized clinical trial that enrolled 503 participants nephropathy, proteinuria greater than or equal to 1 g per day, estimated glomerular filtration rate (eGFR) 20 120 mL/min/1.73 m2 after least 3 months optimized background care from 67...
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Increased levels of the urinary albumin-to-creatinine ratio (UACR) are associated with higher risk kidney disease progression and cardiovascular events, but underlying mechanisms incompletely understood. Here, we conduct trans-ethnic (n = 564,257) European-ancestry specific meta-analyses genome-wide association studies UACR, including ancestry- diabetes-specific analyses, identify 68 UACR-associated loci. Genetic correlation analyses score associations in an independent electronic medical...
The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical genomic data through both harmonized aggregation federated approaches. decreasing cost sequencing (along with other genome-wide molecular assays) increasing evidence its utility will soon drive generation sequence from tens millions humans, levels diversity. In this perspective, we present GA4GH strategies addressing major challenges revolution. We...
The association between physical activity and human disease has not been examined using commercial devices linked to electronic health records. Using the records data from All of Us Research Program, we show that step count volumes as captured by participants' own Fitbit were associated with risk chronic across entire phenome. Of 6,042 participants included in study, 73% female, 84% white 71% had a college degree, median age 56.7 (interquartile range 41.5-67.6) years body mass index 28.1...
One of the justifiable criticisms human genetic studies is underrepresentation participants from diverse populations. Lack inclusion must be addressed at-scale to identify causal disease factors and understand causes health disparities. We present genome-wide associations for 2068 traits 635,969 in Department Veterans Affairs Million Veteran Program, a longitudinal study United States Veterans. Systematic analysis revealed 13,672 genomic risk loci; 1608 were only significant after including...
Elevated concentrations of albumin in the urine, albuminuria, are a hallmark diabetic kidney disease and associated with an increased risk for end-stage renal cardiovascular events. To gain insight into pathophysiological mechanisms underlying we conducted meta-analyses genome-wide association studies independent replication up to 5,825 individuals European ancestry diabetes 46,061 without diabetes, followed by functional studies. Known associations variants CUBN, encoding cubilin, urinary...
Non-alcoholic fatty liver disease (NAFLD) is a common chronic illness with genetically heterogeneous background that can be accompanied by considerable morbidity and attendant health care costs. The pathogenesis progression of NAFLD complex many unanswered questions. We conducted genome-wide association studies (GWASs) using both adult pediatric participants from the Electronic Medical Records Genomics (eMERGE) Network to identify novel genetic contributors this condition.First, natural...
Integrating genetic data from families with highly penetrant forms of disease together outbred populations represents a promising strategy to uncover the complete frequency spectrum risk alleles for complex traits such as rheumatoid arthritis (RA). Here, we demonstrate that rare, low-frequency and common at one gene locus, phospholipase B1 (PLB1), might contribute RA in 4-generation consanguineous pedigree (Middle Eastern ancestry) also unrelated individuals general population (European...