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GnuBio Starts Early-Access Testing of Instrument at Montreal Heart Institute

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GnuBio has shipped its first early-access DNA sequencer to the Pharmacogenomics Centre at the Montreal Heart Institute, a plan it had announced last month (IS 6/14/2011).

The goal of the early-access program is to demonstrate the robustness of the instrument and its chemistry and to apply the requirements of a clinical diagnostic workflow, the company said. Michael Phillips, director of the Pharmacogenomics Centre, is a scientific advisor to the company.

Researchers at the institute have already used the system to sequence the TNNT2 gene in a number of clinical samples from a French Canadian cohort. Mutations in that gene have been associated with familial hypertrophic cardiomyopathy.

According to GnuBio, the system sequenced 395 base pairs at 3,000-fold coverage with a per-base accuracy of 99.94 percent, and detected heterozygous mutations at 10-fold coverage with confidence equivalent to a Phred score of 40.

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