The pioneering genomicist Sydney Brenner has a sound bite that the most important -omics discipline of all is econ-omics.
The holy grail of biomedical research is to translate scientific achievement into practical applications in the clinic. And for genomics to conquer the local hospital ward, it must not only be genom-ical – but also econ-omical.
2011 has seen economical genomics arrive one step closer with the unveiling of two sequencing machines of note that are designed to be affordable to small operations: Illumina's MiSeq and Life Technologies' Ion Torrent Personal Genome Machine.
A new article published in Genome Biology by Olivier Harismendy, Kelly Frazer and colleagues is one of the first publications to showcase MiSeq data. The focus of the article is an ultra-deep targeted sequencing method ('UDT-seq') for the detection of low prevalence mutations in heterogeneous tumor samples. In the article, the authors use calibrated human DNA samples to demonstrate the superior performance of MiSeq over Illumina's Genome Analyzer II platform, in terms of both sensitivity and speed.
The impressive quality of the data generated by MiSeq is an encouraging sign that routine sequencing in the clinic may soon become a reality, and that a new era of radically different diagnosis and pharmacology stratagies may be just around the corner.
As with all sequencing data described in Genome Biology articles, the MiSeq data are available in a public repository (NBCI SRA: SRP009487). The MiSeq vs GAII comparison is also nicely complemented by last month's article from Heinz Himmelbauer and colleagues, which compared the errors and biases in GAII and Illumina HiSeq datasets.