Medicine. The ultimate model organism

Abstract

A deeper understanding of disease requires a database of human traits and disease states that is integrated with molecular information.

The critical intersection of information

Three diseases are separately considered by a quantitative clinical laboratory test measurement, obtained from an EHR, and by one gene's expression measurement, obtained from a public repository of microarrays. Associations can be discovered between molecular and clinical measurements, even when these measurements are not made using the same samples or patients. For example, Disease A, when studied across all patients and time points, shows a high average level of a clinical test (red line), and a low level of a gene (blue line). The distribution of gene and clinical measurements are shown by sampling from both independent data sets (colored regions). The trend across the three diseases shown is that as a disease shows less of a clinical measurement in patients, it shows more expression of a particular gene.