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Genome sequencing method promises higher accuracy with less DNA

16 July 2012
Appeared in BioNews 665

Technology that relies on less DNA to more accurately sequence people's genomes has been unveiled by a US biotech company.

In a paper in the journal Nature, Complete Genomics outlines how its 'long fragment read' technology produces few errors - one per 10 million DNA base-pairs, or 600 errors in an entire human genome – while using less tissue than previously required.

The technique is particularly relevant to non-invasive genetic sequencing of fetuses, and could have applications for screening pre-implantation embryos generated during IVF treatment. Furthermore, the technique enables separate sequencing of both maternal and paternal chromosomes to determine the degree of penetrance of genetic conditions.

Dr Rade Drmanac, Complete Genomics' chief science officer, said that the Nature paper demonstrated a 'ten-fold increase in accuracy' and that the technology 'is unmatched by any high-sensitivity method currently available'.

The company's shares closed up 44 percent on the day the technology was unveiled, with nearly 9.4 million shares of its stock exchanging hands. This will come as welcome news to the company which announced in June that it was laying off 55 staff after the company's net loss of $20.2 million in the first quarter of the year.

Complete Genomics has found it hard to compete with Illumina, which has emerged as the clear front-runner in the burgeoning field of genomic sequencing. Added to this, the firm is currently defending two patent suits filed against it by its rival.

Talking to Forbes magazine, Complete Genomics' chief executive officer Clifford Reid admitted that 'in the research market our advantages are pretty limited. We have higher quality. But in the research market that doesn't matter very much. Researchers can work with lower quality data. That's really been a startling revelation to us that despite the community saying quality is everything quality really isn't everything'.

As a result, Complete Genomics has focused on the prospective clinical market. The company's statement accompanying the Nature paper includes a quote from George Church, professor of genetics at Harvard Medical School, claiming that 'in the not-too-distant future, failure to use [the kind of technology developed by Complete Genomics] when providing genomic diagnoses in patient care will be seen as unacceptably inaccurate'.
Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells
Nature |  12 July 2012
Complete Genomics Announces New Technology Developed to Set Standard for Clinical-Grade Genomes
Complete Genomics (press release) |  11 July 2012
Complete Genomics' Shares Spike on Publication Detailing New Technology
GenomeWeb |  12 July 2012
DNA-Sequencing Factory Could Be The Future If It Survives The Present
Forbes |  13 July 2012
Will LFR Sequencing Enable Full Haplotype Determination in the Clinic?
Genetic Engineering and Biotechnology News |  12 July 2012
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