Abstract
Large population-based cohorts are ideal for the study of common, complex disorders because they allow characterization of gene-gene and gene-environment interactions. We propose a clinical phenome scanning approach to genotype-phenotype association studies, as this approach acknowledges the heterogeneous nature of common diseases and takes advantage of the unprecedented density of phenotypic data available in population-based DNA biobanks. By analogy to genome-wide scanning, the construction of a clinical phenome scan includes a complete scan of all clinically available information (housed in electronic medical records). This is done on a subject-by-subject basis and the resulting phenomes can subsequently be interrogated for association with a single allele for any given gene. By prioritizing phenotype (rather than genotype), this approach allows investigators to ask the question "Which disease is associated with a given gene?" rather than "Which gene is associated with a given disease?".
Original language | English (US) |
---|---|
Pages (from-to) | 175-182 |
Number of pages | 8 |
Journal | Personalized Medicine |
Volume | 4 |
Issue number | 2 |
DOIs | |
State | Published - May 2007 |
Keywords
- Biobank
- Clinical phenome scan
- Common diseases
- DNA
- Phenomic markers
- Pleiotropy