Skip to main content
Premium Trial:

Request an Annual Quote

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

Premium

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.

The Scan

Y Chromosome Study Reveals Details on Timing of Human Settlement in Americas

A Y chromosome-based analysis suggests South America may have first been settled more than 18,000 years ago, according to a new PLOS One study.

New Insights Into TP53-Driven Cancer

Researchers examine in Nature how TP53 mutations arise and spark tumor development.

Mapping Single-Cell Genomic, Transcriptomic Landscapes of Colorectal Cancer

In Genome Medicine, researchers present a map of single-cell genomic and transcriptomic landscapes of primary and metastatic colorectal cancer.

Expanded Genetic Testing Uncovers Hereditary Cancer Risk in Significant Subset of Cancer Patients

In Genome Medicine, researchers found pathogenic or likely pathogenic hereditary cancer risk variants in close to 17 percent of the 17,523 patients profiled with expanded germline genetic testing.