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Illumina Delivers First Genome Under Personal Genome-Sequencing Service


This article was originally published Aug. 31.

Illumina said this week that it delivered the first human genome sequenced under its recently launched personal genome-sequencing service to a customer last month.

The company said that it generated more than 110 gigabases of data, sequencing the genome to more than 30-fold coverage, at its CLIA-certified laboratory, which is also accredited by the College of American Pathologists, using its Genome Analyzer technology.

Illumina delivered the genome to the customer — Hermann Hauser, a partner of Amadeus Capital Partners, and an investor in Solexa, which Illumina acquired in early 2007 — on Aug. 20. in the presence of Hauser's physician, Michael Nova, chief medical officer of San Diego-based direct-to-consumer DNA testing company Pathway Genomics. The analysis revealed 300,000 novel SNPs in Hauser's genome, according to Illumina.

The company launched its $48,000 personal genome sequencing service, which it offers through physicians, in June (see In Sequence 6/16/2009).

While Illumina performs the sequencing and primary analysis of the data, customers need to consult a direct-to-consumer genetic testing company for data-interpretation services.

To test its service, Illumina initially sequenced the genome of its own CEO, Jay Flatley. At the time, it said that besides Hauser's, it was also in the process of sequencing the genomes of Henry Louis "Skip" Gates, a professor and director of the W.E.B. Du Bois Institute for African and African American Research at Harvard University, and that of his father, Henry Louis Gates, Sr.

Both Flatley and Hauser plan to make their genome sequences publicly available, Illumina said previously.

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