Biobank informatics: connecting genotypes and phenotypes

Abstract

The sequencing of the human genome, completed at the dawn of the twenty-first century, allows researchers to integrate new data on genetic risk factors with demographic and lifestyle data collected via modern communication technologies. The technical prerequisites now exist for merging these cascades of molecular genetic information, not only to national health registers, but also to epidemiology and clinical data. Long-term storage of biological materials and data is a critical component of any epidemiological or clinical study. In designing Biobanks, informatics plays a vital role for the handling of samples and data in a timely fashion. Biobank Informatics contains important elements concerning definition, structure, and standardization of information that has been gathered from a multitude of sources from population-based registries, biobanks, patient records, and from large-scale molecular measurements.