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News 2007

First individual human diploid genome published by international research group that includes TCAG scientists

Researchers at the J. Craig Venter Institute (JCVI), collaborating with Genome Canada/Ontario Genomics Institute (GC/OGI)-funded researchers at The Hospital for Sick Children (SickKids) in Toronto and the University of California, San Diego (UCSD), have published the first-ever complete genome sequence of an individual.

The sequence, of American genome researcher J. Craig Venter, covers both of his chromosome pairs (or diploid genome), one set being inherited from each of his parents. This new genome represents the first time a true diploid genome from one individual has been published. The research is available in the September 2007 issue of the open access public journal, PLoS Biology. This research was supported by all of the TCAG facilities, the GC/OGI funded Science and Technology genomics platform for Ontario, including Microarray Analysis, Cytogenomics and Genome Resources and DNA sequencing.

This analysis and assembly of the 20 billion base pairs of Venter's DNA is the first look at both sets of his chromosomes (one inherited from each of his parents) and has shown a greater degree and more kinds of genetic variation with human to human variation five to seven times greater than in previously determined.

Two other versions of the human genome currently exist-one published in 2001 by Dr. Venter and colleagues at privately-funded Celera Genomics in the U.S., and another, at the same time, by a consortium of government and foundation-funded researchers. These genomes were not of any single individual, but rather were a mosaic of DNA sequences from various donors.