Nature paper reveals novel genes and 600,000 previously uncharacterized SNPs.

Researchers at Baylor College of Medicine and 454 Life Sciences published the complete DNA sequence and analysis of the human diploid genome of James Watson, Ph.D. Dr. Watson, after consultation with a genetic counselor, chose to make the sequence data publicly available, omitting only the Apo E gene and neighboring sequence associated with Alzheimer’s disease.

The sequencing, which was completed within two months and reported in June 2007, used 454’s Genome Sequencer FLX™ system and marked the first individual genome to be sequenced for less than $1 million. The genome was analyzed using the 454 Sequencing technology to 7.4 redundancy, facilitating a detailed comparison against the publicly available reference human sequence.

The data analysis revealed the presence of 3.3 million SNPs including more than 600,000 previously uncharacterized SNPs compared to the reference sequence. Furthermore, the data allowed the researcher team to detect over 200,000 insertion and deletion polymorphisms as well as copy number variations including the large-scale gain and loss of chromosomal segments.

“Overall, these results agree well with recent results of sequencing of a single individual by traditional methods,” wrote the researchers. “However, in addition to being faster and significantly less expensive, this sequencing technology avoids the arbitrary loss of genomic sequences inherent in random shotgun sequencing by bacterial cloning because it amplifies DNA in a cell-free system.”

The study is published in the April 17 issue of Nature.

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