First individual genome sequence...( Independent sequence and assembly of...)

Independent sequence and assembly of the six billion base pairs from the genome of one person ushers in the era of individualized genomics

Researchers at the J. Craig Venter Institute (JCVI), along with collaborators at The Hospital for Sick Children in Toronto and the University of California San Diego (UCSD), have published a genome sequence of an individual, Craig Venter, that covers both sets of chromosomes that were inherited from each parent.

Two other versions of the human genome currently existone published in 2001 by J. Craig Venter, Ph.D., and colleagues at Celera Genomics, and another at the same time by a consortium of government-funded researchers. These genomes were not of any single individual, but, rather, were a melding of DNA from various people. In the case of Celera, it was a consensus assembly from five individuals, while the government-funded version was a haploid genome based on sequencing from a limited number of individuals. Both versions greatly underestimated human genetic diversity.

This new genome, known as the HuRef version, represents the first time a true diploid genome from one individualDr. Venterhas been published. The research is available in the latest issue of the open-access journal PLoS Biology.

Researchers at the JCVI have been sequencing and analyzing this version of Dr. Venters genome since 2003. Building on reanalyzed data from Dr. Venters genome that constituted 60% of the previously published Celera genome, the team had the goal of constructing a true reference human genome based on one individual. Using whole genome shotgun sequencing and highly accurate long reads from Sanger dideoxy automated DNA sequencing, the team produced additional data making the final 32 million sequences.

From the combined data set of more than 20 billion base pairs, the researchers were able to assemble the human genome with an overall length of 2.810 billion base pairs. The genome was co
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