Title : The DNA sequencing revolution: The short and the long of it
Massively parallel sequencing (MPS) has sparked a revolution in our capabilities to sequence first megabases then gigabases and now terrabases of DNA sequence. First-generation MPS was based upon technologies that amplified individual DNA molecules to a sufficient number of copies so that these amplified sequences could be interrogated. The strength of these technologies is that now they are capable of accurately determining the sequence of terrabases of DNA thus making them ideal for everything from whole-genome sequencing to analysing complex transcriptomes. However, the weakness of these technologies is that they can only generate short reads which makes it extremely difficult to generate complete maps of more complex genomes that are replete with highly repetitive sequences, among other things. Second generation MPS technologies are capable of analysing the sequence of individual unamplified molecules and can generate the sequence of fragments that are hundreds of kilobases in length. The disadvantage of these technologies is that they are nowhere near as accurate and can only generate a fraction of the sequence output of the first generation MPS technologies. However, first and second-generation MPS technologies complement each other. In this talk I will discuss the first and second generation MPS technologies and have they will quickly transform the world as we now know it. I will also discuss the future of these technologies and the implications that this will have in the world to come.
Presentation Learning Outcome
• The history of massively parallel sequencing (MPS)
• The strengths and weaknesses of both first and second-generation MPS technologies
• The effect that these technologies will have on both research and its’ clinical translation