Biomedical Engineering Reference
In-Depth Information
running them through the NGS platforms, has been a huge logistics and
project management operation. However, the part of the project of most
relevance here is the informatics task of managing this data avalanche. In
particular, analysing and assembling the results into useful information
that biologists are able mine and use to generate new insights into human
variation. A project of this scale had never been attempted previously in
the world of biology, new technology has been developed and iteratively
improved by some of the world's most prestigious research institutes. As
many of these institutes receive public funding, there has been a long
tradition of publishing their software under open source licences. This
has many benefi ts.
By defi nition open source code has nothing hidden, so its function is
completely transparent and easy to examine and analyse. This
allows for scientifi c peer review of a method, easy repetition of
experiments and for scientifi c debate about the best way to achieve
a given goal.
This transparency allows other scientifi c groups not only to replicate
experiments, but also to add new features, or indeed suggest code
improvements without fear of a team of lawyers knocking on their
door.
A project like the 1000 genomes is for the benefi t of all mankind and
as soon as the data are available in a suitable format, they are put up
on an FTP site for anyone in the world to download. There are no
commercial considerations, no intellectual property to collect licence
fees on, no shareholders looking for a return on investment. Everything
that is done is available to everyone.
￿ ￿ ￿ ￿ ￿
Often open/community approaches can be criticised, rightly or wrongly,
for not being as 'good', well supported or feature-rich as their commercial
rivals. However, the sheer scale of investment and intellect that is focused
on challenges such as the 1000 genomes produces science of the very
highest quality. Software that has been built and tested against the biggest
and most demanding data sets in history, and consequently really sets a
gold standard. The technology developed for projects such as the 1000
genomes is being re-used in many additional projects; from helping sub-
Saharan farmers by understanding the relationship of genetics to viability
of their cattle, to helping answer questions about the nature of human
migration out of Africa some 10 000 years ago. However, by far and
away the biggest value of the utilisation of this technology will be in the
battle against disease.
 
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