Tools and Resources
BioVU
BioVU is Vanderbilt's collection of DNA samples coupled to a deidentified image of the Vanderbilt electronic medical record system, termed the “Synthetic Derivative.”
Established in 2007, BioVU contained >343,000 samples in mid-2024, and is the largest collection of DNA samples coupled to EHRs at a single academic institution world-wide. BioVU has served as a critical platform for genomic discovery both at Vanderbilt and in collaboration with other institutions nationally and internationally. The rich phenotypic information in BioVU has enabled the development of the phenome wide association study (PheWAS).
In March 2025, an alliance with the genomics company Illumina and nine pharmaceutical partners completed whole genome sequencing in 250,000 BioVU samples.
Genotype-Tissue Expression (GTEx) Portal
The GTEx program provides valuable insights into the mechanisms of gene regulation by studying human gene expression and regulation in multiple tissues from healthy individuals, exploring disease-related perturbations in a variety of human diseases, and examining sexual dimorphisms in gene expression and regulation in multiple tissues.
PrediXcan is a gene-based association method for mapping traits using transcriptome data, and metaXcan is an extension of prediXcan using summary statistics-based gene level association.
Health Information Privacy Laboratory (HIPLab)
The HIPLab was founded to address the growing needs for privacy technology research and development for the emerging health information technologies sector.
The goal of the HIPLab is to improve the protection of patients' privacy in health information systems while optimizing the utility of data for research.
Molecular Tumor Board
This virtual conference provides an opportunity for local and regional healthcare providers to present genomic or other molecular findings for evaluation and interpretation by a panel of experts that includes oncologists, cancer geneticists, pathologists, and other specialists.
Physicians can submit patient cases for expert review by a team of oncologists, geneticists, and scientists through the VICC-HOPE Molecular Tumor Board Case Submission Portal.
My Cancer Genome
My Cancer Genome provides information on molecular biomarkers and their relationship to therapeutic outcomes of molecularly-targeted therapies. It contains assertions on the clinical impact of >16,000molecular biomarkers on the use of nearly 3,000 drugs in >900 cancer types.
My Drug Genome
This site is a resource to learn about how genetics can affect the way medications work and how genetic results can be incorporated into personalized patient care.
The resource is especially useful for patients in whom PREDICT pharmacogenetic testing has been performed.
Phenotype Knowledgebase (PheKB)
This resource is a collaborative environment for building and validating electronic algorithms to identify subsets of patients by case or control status within electronic health data.
PheKB was functionally designed to enable such a workflow and has purposefully integrated tools and standards that guide the user in efficiently navigating from early stage development to public sharing and reuse.
PheKB has tools to enable cross-site collaboration for algorithm development, validation, and sharing for reuse with confidence.
PheWAS Catalog
This provides a catalog of PheWAS results and resources. Phenome-wide association studies (PheWAS) analyze many phenotypes compared to a single genetic variant (or other attribute). This method was originally described using electronic medical record (EHR) data from the Vanderbilt DNA biobank, BioVU, but is now widely-used to analyze other richly phenotyped sets.