Biobanks and Reference Populations

Biobanks and reference human populations play an important role in supporting drug discovery and development in the era of precision medicine. A biobank is an organized collection of human biological material and associated information stored for one or more research purposes (Kauffmann and Cambon-Thomsen, 2008). Reference populations, often offered in public databases, provide scientists valuable platforms to understand and discover therapeutics for specific disease populations.

BSSI utilizes data science to understand “big data” from biobanks such as the UK Biobank cohort of approximately 500,000 participants and extract useful information to inform the drug development process using a combination of biostatistics and bioinformatics.

In collaboration with clients, BSSI has studied multiple databases in efforts to identify or validate drug targets, understand disease etiology or progression, discover or qualify biomarkers, and serve under-represented populations. Examples of databases include:

  • UK Biobank and other biobanks;
  • The Alzheimer’s Disease Neuroimaging Initiative and other AD cohorts;
  • The Parkinson’s Progression Markers Initiative;
  • A worldwide observational study for Huntington’s disease families;
  • The Cancer Genome Atlas Program and other oncology databases;
  • Molecular profiling libraries such as Flatiron, Foundation Medicine, and Tempus;
  • 1,000 Genomes Project and Human Genome Project.