Bioinformatics -- Understanding of living systems through information science

Recently, the progress of the Human Genome Project, aiming to decode all human DNA sequences, has highlighted a research field called bioinformatics. In this new field, computers and techniques from information science are not just used as tools to advance life science research; they're expected to have a major impact on how we think about the life sciences.

Q. The main feature of bioinformatics is, it utilizes computers to analyze life. One is example is the genome. In all organisms, DNA contains genetic information, and this is called the genome. But the amount of information involved is huge, so recently, it's been read using next-generation sequencers, and analyzed by computers. In bioinformatics research, what we do is utilize those genome information to investigate the principles of life.

As an organism evolves, its genome sequence changes through sudden mutations. Additionally, at the genome level, mutations called rearrangements, such as inversions, transpositions, and duplications, occur.

The genome comparison system developed by the Sakakibara Lab calculates homologous sequences called anchors, which are conserved between species. If the genome is considered as a long text, then anchors can be thought of as words.

Q. We're coming to understand the genomes of various organisms - not just humans, but monkeys, chimpanzees, bacteria, and so on. The first method used to analyze a genome is comparing it with the genomes of other organisms, to see where it's the same and where it's different. In that way, the content of the genome is decoded bit by bit, using computers. By contrast, in our method, we've developed software called Murasaki, which we also use to analyze large genomes, by comparing them with those of other organisms.

The Sakakibara Lab uses a next-generation sequencer at Keio University, along with a cluster machine with hundreds of CPUs. In this way, the Lab is analyzing genome mutations that cause cancer, and the genome of the natto production strain Bacillus subtilis.

Until now, genome analysis could only be done in national-scale projects. But now, next-generation sequencer development has made genome analysis possible in an ordinary lab. In a world-first achievement, the Sakakibara Lab has decoded the natto bacillus genome, through analysis using Keio's next-generation sequencer.

Q. In the future, biology and the life sciences may become almost entirely information science and computer science. And in healthcare, that may enable us, for example, to predict whether individuals are susceptible to cancer, or to certain lifestyle-related diseases, by understanding their personal genome data. So, I think it's amply possible that we can make use of such information effectively, to help people live longer and be free from disease, by thinking about their lifestyle habits.

Bioinformatics is only two decades old. In this field, many areas are still unknown. Professor Sakakibara, having been involved since the beginning, will continue tackling new, challenging research projects.