Biomedical Engineering Reference
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factory atmosphere as well (Sulston et al. 1992 ). In 1993 the Sanger Centre, later
renamed the Wellcome Trust Sanger Institute, was established by the Wellcome
Trust and the Medical Research Council. The facility has produced ~3.4 × 10 9 bases
of fi nished sequence by the 30th anniversary of the dideoxy sequencing method.
Sequencing the Human Genome
Eventually, sequencing of the human genome became an imaginable goal at the
outset of the sequencing era 30 years ago. Formal discussions of the idea began in
1985 when Robert Sinsheimer organized a meeting on human genome sequencing
at the University of California, Santa Cruz (Sinsheimer 2006 ). That same year
Charles DeLisi and David A. Smith commissioned the fi rst Santa Fe conference,
funded by the DOE, to study the feasibility of a Human Genome Initiative. In 1990
the DOE and NIH presented a joint 5-year US Human Genome Project plan to
Congress. It was estimated that the project would take 15 years and cost ~3 billion
US$ (Fig. 1.1 ).
The US Human Genome Project established goals of mapping, and in some
cases sequencing, several model organisms as well as humans. These included
E. coli , yeast ( S. cerevisiae ), the worm ( C. elegans ), drosophila ( D. melanogaster ),
and mouse (laboratory strains of Mus domesticus ). The publicly funded effort
became an international collaboration between a number of sequencing centers in
the United States, Europe, and Japan. Each center focused sequencing efforts on
particular regions of the genome, necessitating detailed mapping as a fi rst step. In
1994, a detailed genetic map of the human genome was published including 5,840
mapped loci (Murray et al. 1994 ). In 1998 the public project, now in a race with
Celera, also adopted the new ABI Prism 3700 capillary sequencers. In 1999 the
Human Genome Project celebrated passing the billion base-pair mark, and the fi rst
complete sequence of a human chromosome was reported [chromosome 22]
(Dunham et al. 1999 ). On 25 June 2000 at the White House, President Clinton with
Prime Minister Tony Blair publicly announced draft versions of the human genome
sequence from both the publicly funded project and from Celera (Fig. 1.1 ). In
February 2001, the Celera and the public draft human genome sequences were pub-
lished the same week in Science and Nature (Lander et al. 2001 ; Venter et al. 2001 ).
Overview of Next-Generation-Sequencing
and Clinical Applications
In the last few years, methods have emerged that challenge the gold standard of
dideoxy Sanger sequencing. All of these recently developed non-Sanger commer-
cial sequencing platforms, including systems from 454/Roche, Illumina, Applied
Biosystems/Life Technologies, Dover, Helicos Biosciences, Ion Torrent, and Ion
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