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Illumina Sequences Full Genomes of Family of Four


This article, originally published April 16, has been updated to note that the identity of a family sequenced in an earlier study has been made public.

Illumina announced last week that it has sequenced the genomes of a family of four, marking the first publicly disclosed family to have their genomes sequenced to full coverage by the company.

John West, the former CEO of Solexa, which Illumina acquired in 2007, and his wife and two children had their DNA sequenced at the company's CLIA-certified and CAP-accredited laboratory.

The company launched its personal genome sequencing service, which has a list price of $48,000, last June (IS 6/16/2009).

"Sequencing individuals provides fantastic visibility into our genetic makeup," West, now the CEO of stem cell engineering company Novocell, said in a statement. "By sequencing a family of at least four we can go a step further to interpret compound heterozygote variations in genes — those cases where multiple variations in a single gene, but on opposing chromosome copies, combine as a virtual homozygote."

In order to protect the family's privacy, the Wests opted to submit only one parental genome and none of the children's genomes to GenBank. The children, who are both under 21 years of age, will have the option of submitting their own data once they turn 21.

Illumina CEO Jay Flatley said in a statement that moving from sequencing individuals to entire families will lead to "more comprehensive information about a family's genetic makeup," and a "greater understanding of the human genome."

The Wests are not the first family to have their genomes sequenced. In March, researchers from the Institute for Systems Biology published a study that sequenced the whole genomes of four family members to identify causative genes for Miller syndrome (IS 3/16/2010).

The identities of those family members were not disclosed by the researchers but were revealed in an article published in March in the Salt Lake Tribune.