Bioinformatic investigation of the human and Arabidopsis epigenomes

Julian Tonti-Filippini

Research output: ThesisDoctoral Thesis

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Abstract

In a media release (dated 26-June-2000) scientists announced that they had completed the first draft of the human genome sequence. This major scientific milestone required the work of hundreds of people, took a decade to complete, and cost around $US 3,000,000,000. Only a decade later, the same feat could be accomplished by a single laboratory, over a few weeks, and for less than $30,000. In another decade, it is expected that DNA sequencing technology will allow a single technician to sequence a human genome in less than one hour and for an equivalent cost of around $100. DNA sequencing technology is improving so rapidly that the current rate of advance exceeds Moore's Law (an observation that computing power doubles every two years). Faced with exponential growth of DNA sequencing information, a data-crisis has manifested as researchers struggle to process data at the speed it is being generated. Data-handling issues aside, it was expected by many that the high quality of new genetic data would usher in a golden age of medical research. Breakthroughs in prevention, diagnosis and treatment were expected to surge as researchers cracked the genetic secrets of complex diseases. Unfortunately, research outcomes have under-performed expectations as new observations (empowered by new technology) have made it clear that the biological landscape is more complex than previously appreciated. It is now evident that additional layers of information, parallel to DNA, must also be explored in order to better understand disease states. Known as the "epigenome" this additional biological information is dynamic, sensitive to environmental factors, and actively regulates the activity of genes within the genome by influencing the accessibility of DNA.
Original languageEnglish
QualificationDoctor of Philosophy
Publication statusUnpublished - 2011

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