Sequencing: A Technical Overview

The huge advances that have been made in human (and other species) genome projects have been lead by, and have themselves fueled, tremendous innovations in the field of sequencing. These innovations have lead to a specialization, with very expensive equipment, often in core sequencing centers or services. Until the cost of automated sequencing equipment falls considerably, the economics of scale mean that unless an investigator has a huge amount of sequencing to perform, they are most likely to be best served by using these services rather than by investing in the technology themselves. There is always a temptation in such situations to treat the sequencing as a black box, without worrying too much how the data are generated. This is a mistake. A clear understanding of the principals involved will not only aid the design of sequencing strategies but will also help in the interpretation of less than perfect data.