Towards Precision Medicine through Deep Sequencing

The key to precision medicine is focused data generation and analysis. Deep sequencing offers a relatively painless method of generating large volumes of data, but it is often a solution in search of a problem. Indiscriminate application of the technology results in a deluge of data that is massaged into incomprehensible publications that neither deliver precision, nor aid medicine. I identified three areas, small RNA biology, mitochondrial genetics and the TCR-repertoire, of importance in medicine, where I deemed specialized techniques to be necessary. Methods developed by us in these areas have generated accurate, meaningful data. The precision of the techniques is beginning to afford us unique insights into the biology. In each of the cases, the analytical techniques were driven by the experimental methods and the interplay between them was critical in developing the technologies. Thus the methods I present here hold the potential to have an impact on basic and clinical research. I describe the advances in each of these fields in the following chapters.