After careful scrutiny by a panel of judges, The Scientist magazine has announced its top 10 life science innovations of 2014 (1) and… genomics came out on top. In fact, technologies used in sequencing snagged the top five positions on the list (Table 1). The number one spot was taken by the DRAGEN Bio-IT processor from US-based company, Edico Genome.
| No. | Innovation | Company | Fast Facts |
| #1 | DRAGEN Bio-IT Processor | Edico Genome | A bioinformatics processing system for fast, cost-effective analysis of genomic data |
| #2 | MiSeqDx | Illumina | A next gen sequencer the size of a bread box, and the first to be FDA approved for clinical diagnostics |
| #3 | HiSeq X Ten | Illumina | Illumina’s newest sequencer, which produced the $1,000 genome |
| #4 | IrysChip V2 | BioNano Genomics | A sophisticated electrophoresis chamber on a chip, able to capture high res images of large genome structures |
| #5 | Raindrop Digital PCR System | RainDance Technologies | A sensitive digital PCR system which can quantify rare sequences and provide gene expression information |
The idea behind the processor is to shrink the effort needed for genomic analysis – instead of a group of servers, DRAGEN can store and analyze data on a small card which can be installed on a server as small as a desktop computer. According to CEO Pieter van Rooyen, it can also drastically reduce analysis time. “The card is available on a pre-configured server that can be easily integrated into a next generation sequencing (NGS) bioinformatics pipeline,” he says. “The processor is loaded with optimized algorithms for NGS analysis including decompression, mapping, aligning, sorting, and haplotype variant calling.
This can reduce the time it takes to analyze a whole human genome at 30X coverage from 24 hours to just 24 minutes. It could also reduce the costs of storage and IT infrastructure,” he explains.
So what are Edico’s plans for DRAGEN? “Sequenom is our first customer, and our technology is also being used by the University of California, San Diego, US. We only began selling DRAGEN a few months ago, but we are talking with a number of potential partners and customers – ranging from small startups to well established companies, to academic institutions and even government agencies. Potential future areas include clinical genomics, especially cancer genomics, and non-invasive prenatal testing, which I think will grow tremendously in coming years.”
Looking ahead, Edico want to extend the platform beyond the genome, exome and panel workflows they currently offer, to include RNA-seq, cancer, transcriptome, methylome and microbiome analysis. “We are honored and humbled to have been named the number one innovation of 2014 – it’s a true testament to the hard work and dedication of our team,” says van Rooyen.
- The Scientist, “Top 10 Innovations 2014”, (2014). Available at: bit.ly/12jXGIZ. Accessed February 11, 2015.
I have an extensive academic background in the life sciences, having studied forensic biology and human medical genetics in my time at Strathclyde and Glasgow Universities. My research, data presentation and bioinformatics skills plus my ‘wet lab’ experience have been a superb grounding for my role as an Associate Editor at Texere Publishing. The job allows me to utilize my hard-learned academic skills and experience in my current position within an exciting and contemporary publishing company.
