Figure 2.

Sequencing technologies and their uses. Various NGS methods can precisely map and quantify chromatin features, DNA modifications and several specific steps in the cascade of information from transcription to translation. These technologies can be applied in a variety of medically relevant settings, including uncovering regulatory mechanisms and expression profiles that distinguish normal and cancer cells, and identifying disease biomarkers, particularly regulatory variants that fall outside of protein-coding regions. Together, these methods can be used for integrated personal omics profiling to map all regulatory and functional elements in an individual. Using this basal profile, dynamics of the various components can be studied in the context of disease, infection, treatment options, and so on. Such studies will be the cornerstone of personalized and predictive medicine.