The last few years of genetic research has seen the growth of large clinical bio-repositories that are linked to electronic medical records (EMRs) [25]. The development of these resources will certainly advance the state of human genetics research and foster integration of genetic information into clinical practice. From a study design perspective, identifying phenotypes from EMRs can be challenging. Electronic medical records were established for clinical care and administrative purposes – not for research. As such, idiosyncrasies arise due to billing practices and other logistical reasons, and great care must be taken not to introduce biases into a genetic study.
