Human genome sequencing technology is developing rapidly. These developments are providing exciting opportunities for genetic mapping of human traits, ranging from accelerated discovery of mutations underlying relatively simple Mendelian disorders to more genetically complex human diseases. This chapter outlines the development of whole-genome sequencing in a historical context of genetic mapping and explores the impact that sequencing is having on gene discovery study design. Using the example of epilepsy, the authors outline the opportunities and barriers for the translation of genetic predictors from discovery to the clinic. Finally, the authors discuss the practical challenges of actual implementation of whole-genome sequencing to the clinic.
Royal College of Surgeons in Ireland ->