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HUNT FOR GENETIC TREASURE
New Zealand bioinformatics company Biomatters has
recruited some Elvish agents to search DNA databases for genetic
treasure, while biologists get on with more important work.
Daniel Batten, CEO of the Auckland-based software
company believes Biomatters’ new iSeek software platform, launched
last week, represents the future of bioinformatics, and will help
usher in the age of personalized medicine.
Batten is at Ausbio2004 in Brisbane promoting the
technology to Australian biotechnology researchers.
Like the shoemaking elves of fairytale fame,
iSeek’s software agents work in the background, comparing gene
sequences from different individuals, seeking tiny differences that
may influence a person’s risk of developing cancer, cardiovascular
disease, diabetes and other diseases.
The estimated 25-30,000 human genes in the human
genome are peppered with thousands of single-letter differences,
called single-nucleotide polymorphisms (SNPs, or “snips”).
SNPs are the ultimate source of individual genetic
differences – or genetic variability – in the world’s 6 billion-plus
individuals. SNPs may not only influence an individual’s
susceptibility to disease, but their response to therapeutic drugs.
An oncologist’s choice of a chemotherapy drug, and the dose, could
pivot on whether a cancer patient has a particular SNP in a key
gene.
Batten says personalized medicine has remained a
dream because computer science has not kept pace with the rate at
which DNA sequence data is cascading into international genetic
databases.
Until now, molecular biologists have had to
manually program their software to compare gene sequences in
international databases. Batten said these first-generation
bioinformatics tools, many of them developed in-house, are
time-consuming to use, and are not interoperable.
He said iSeq provides a framework where
bioinformatics tools can talk to each other, hiding much of the
complexity of genome analysis behind a single, user-intuitive
interface that any molecular geneticist can use.
ISeek can perform local searches on downloaded DNA
sequences, or go hunting on line in large public databases,
automatically comparing, extracting, aligning and annotating
gene-sequence information.
With current methods, the information retrieved
may be months out of date by the time a search is completed – the
volume of data is growing by 50 per cent a year. ISeek’s “elves” can
be programmed to monitor new sequence data flowing into
international databases, for variation in genes of interest.
Batten said iSeek promises to save biologists
large amounts of valuable research time that is currently wasted on
laborious and time-consuming searches.
Science in Public, 9 November 2004 |