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'Faster, Cheaper, Deeper'


A new study published in the Journal of Molecular Diagnostics by researchers at the University of Toronto's Mount Sinai Hospital describes a "faster, cheaper, deeper" method for breast cancer mutation sequencing, says Genetic Engineering & Biotechnology News. The team used long-range PCR to generate BRCA1 and BRCA2 amplicons from the DNA of familial breast cancer patients and then analyzed the amplicons using next-generation sequencing technology, GEN says. "In contrast with conventional screening methods that target just the BRCA1 and BRCA2 exons, the deep sequencing approach can screen the entire genomic region, including introns and untranslated regions," GEN adds.

The team managed to complete its analysis faster than conventional BRCA screening. It was also cheaper. "We describe an effective approach for NGS of BRCA1/2 with a reasonable cost of materials per sample (approximately $169.55 for 50× paired end sequencing) with a turnaround time of 12 working days," the researchers write in their study. "Given the low cost, fast turnaround time, improved accuracy, and the generation of more comprehensive genetic data sets, it is inevitable that genetic testing for BRCA1/2 will move toward NGS."

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