Vanderbilt University Medical Center at ASHG 2026 in Montréal: 19 presentations (17 posters, 1 lightning talk, 1 platform talk); 13 research groups; Booth 111.
Develops computational methods for GWAS, whole-blood RNA-seq and EHR-linked biobanks. Applies them to cardiometabolic disease, stuttering and Alzheimer’s disease.
Funded by NIH
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NIH, R01 · active
The NIH's standard multi-year research project grant.
“currently serves as PI of seven NIH funded R01s.”
Analyzes genomic, proteomic, neuroimaging and neuropathology data, including amyloid PET and diffusion MRI. Focuses on Alzheimer’s disease risk, resilience and sex differences.
260 papers since 2024
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The Global Neurodegeneration Proteomics Consortium: biomarker and drug target discovery for common neurodegenerative diseases and aging
Nature Medicine, 2025
Clinical criteria for limbic‐predominant age‐related TDP‐43 encephalopathy
Alzheimer s & Dementia, 2025
Sex and gender differences in cognitive resilience to aging and Alzheimer's disease
Uses patient health care records and genetic information from a DNA repository patterned after BioVU. Identifies genotype/phenotype associations and genotype/treatment relationships.
78 papers since 2024
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Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations
Nature Medicine, 2024
Leveraging large language models for generating responses to patient messages—a subjective analysis
Journal of the American Medical Informatics Association, 2024
Leveraging generative AI to prioritize drug repurposing candidates for Alzheimer’s disease with real-world clinical validation
“support numerous National Institutes of Health (NIH) grants in the area of EHR phenotyping, natural language processing (NLP), machine learning, PheWAS, and Pharmacogenomics research”
Uses EHR, genetic, environmental and wearable-device data for rare-disease identification and prognostic modeling. Builds VUMC resources and tests methods in randomized clinical trials.
43 papers since 2024
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Sleep patterns and risk of chronic disease as measured by long-term monitoring with commercial wearable devices in the All of Us Research Program
Nature Medicine, 2024
Physical Activity and Incident Obesity Across the Spectrum of Genetic Risk for Obesity
JAMA Network Open, 2024
Genome-Wide Association Study of Treatment-Resistant Depression: Shared Biology With Metabolic Traits
Combines DNA biorepositories, electronic medical records and the eMERGEseq sequencing platform. Uses phenotype algorithms, polygenic risk scores and genomic risk assessments to implement genomic medicine.
78 papers since 2024
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Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations
Nature Medicine, 2024
Leveraging large language models for generating responses to patient messages—a subjective analysis
Journal of the American Medical Informatics Association, 2024
Leveraging generative AI to prioritize drug repurposing candidates for Alzheimer’s disease with real-world clinical validation
Uses BioVU, eMERGE, UK Biobank, All of Us, SyncroPatch, and deep mutational scans. Reclassifies uncertain variants in arrhythmia and ion-channel disease.
24 papers since 2024
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The functional landscape of coding variation in the familial hypercholesterolemia gene LDLR
Science, 2025
Guidelines for releasing a variant effect predictor
Genome biology, 2025
Multiplexed Assays of Variant Effect and Automated Patch Clamping Improve KCNH2 -LQTS Variant Classification and Cardiac Event Risk Stratification
Builds software, data pipelines and cloud solutions for EHR, DNA-sequence, radiology-image and survey data. Supports clinical researchers and the All of Us Research Program.
41 papers since 2024
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Genomic data in the All of Us Research Program
Nature, 2024
Identifying and Extracting Rare Diseases and Their Phenotypes with Large Language Models
Journal of Healthcare Informatics Research, 2024
Physical Activity and Incident Obesity Across the Spectrum of Genetic Risk for Obesity
Funded by National Center for Advancing Translational Sciences (NCATS)
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National Center for Advancing Translational Sciences (NCATS), Clinical Translational Science Award (CTSA) Program, Award Number 5UL1TR002243-03 · active
“VICTR is funded by the National Center for Advancing Translational Sciences (NCATS) Clinical Translational Science Award (CTSA) Program”
Analyzes genome-wide association, whole-exome/whole-genome sequencing and EHR-linked BioVU data. Studies human disease genetics with national and international consortia.
Funded by National Institutes of Health, National Institutes of Health
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National Institutes of Health, NIH-funded R01s · active
The NIH's standard multi-year research project grant.
“currently serves as PI of five NIH funded R01s”
National Institutes of Health, Vanderbilt Training Program on Genetic Variation and Human Phenotypes · active
“multiple training grants funded by the National Institutes of Health, particularly the Vanderbilt Training Program on Genetic Variation and Human Phenotypes”
Prenatal, Perinatal, Reproductive, and Developmental Genetics
Collaborators: Vanderbilt University, Vanderbilt Health
DevelopmentExpression quantitative trait lociRegulation of transcriptionPrecision medicine
Vanderbilt-Ingram Cancer Center, Hereditary Cancer Programmedsites.vumc.org/…
~3 people
Studies hereditary cancer using pedigree data and genomic and tumor DNA. Translates genetic insights into clinical care through evaluation, counseling and testing.
Funded by NHGRI
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NHGRI, ClinGen · active
“current member of the External Scientific Panel for ClinGen, an NHGRI funded project”
Studies genetic determinants using EHR-linked DNA, genome-wide arrays, sequencing and the Right from the Start cohort. Focuses on women’s health, reproductive outcomes and complex traits.
45 papers since 2024
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Multi-ancestry meta-analysis of keloids uncovers novel susceptibility loci in diverse populations
Nature Communications, 2025
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations
Nature Medicine, 2024
Patient-Reported Discussions on Fertility Preservation Before Early-Onset Cancer Treatment
Electronic health record (EHR) databases, Genome-wide arrays, Next-generation sequencing platforms, Whole-genome sequencing, Whole-exome sequencing
Techniques
Genome-wide association studies, Phenome-wide association studies, EHR phenotyping, Exome chip analysis, Genetically predicted gene expression, DNA and RNA sequencing
Develops EHR phenotyping methods using longitudinal EHR, genetic data and the OMOP Common Data Model. Applies them to precision medicine and cardiovascular risk prediction.
38 papers since 2024
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Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations
Nature Medicine, 2024
Leveraging generative AI to prioritize drug repurposing candidates for Alzheimer’s disease with real-world clinical validation
npj Digital Medicine, 2024
Large language models facilitate the generation of electronic health record phenotyping algorithms
Journal of the American Medical Informatics Association, 2024
Electronic health records (EHR), OMOP Common Data Model, UMLS, ICD-10-CM, SNOMED CT, CPT, LOINC, RxNorm
Techniques
Natural language processing (NLP), Machine learning, Deep learning, Logistic regression, Gradient boosting trees (GBT), LSTM, Phenome-wide association studies (PheWAS)
Leverages EHR databases linked to DNA, biorepositories, and genetic, transcriptomic and metabolomic data. Focuses on reproductive outcomes, maternal-child health and prevention.
45 papers since 2024
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Multi-ancestry meta-analysis of keloids uncovers novel susceptibility loci in diverse populations
Nature Communications, 2025
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations
Nature Medicine, 2024
Patient-Reported Discussions on Fertility Preservation Before Early-Onset Cancer Treatment