NanoString and Focused Gene Expression

NanoString is a startup company that has commercialized a product called the nCounterâ„¢ system. It is able to take an RNA sample and look at the expression level of up to 800 genes per sample, and recent news indicates that it is in current preparation for an IPO.


The X Prize and Genomics Incentives

Today I learned that Charles Lindbergh flew non-stop from New York City to Paris in 1927 as a result of a $25,000 prize put up by a hotel owner, Raymond Orteig, way back in 1919. Worth some $325K in 2012 dollars, the prize was renewed in 1924 when the technology […]


The Ion Torrent Proton compared to the Illumina HiSeq 2500 8

There is a lot of interest in what is the Next Big Thing in next-generation sequencing. The case can be made that the clinical application of NGS (either targeted sequencing or WES or WGS for cancer genomics) will be that growth driver, but I suspect it will be the next […]


Complete Genomics’ Long Fragment Read Technology and Haplotype Phasing 2

This week a remarkable paper was published in Nature, called “Accurate  whole-genome sequencing and haplotyping from 10 to 20 human cells”. What makes it remarkable is the ability of this method to obtain rare variant phase information by changing the library preparation method. Until now to obtain completely phased individual […]


An Overview of NGS Targeted Selection Methods and Marketplace 2

Although the whole genome versus whole exome discussion was held previously, details around the methods of selecting out the whole exome have been not discussed (also called ‘targeted selection’), and the wide array of methods, costs, and effort required can be a rather complicated affair.


Single Molecule Sequencing – Pacific Biosciences and their method

In previous posts I covered the basics of next-generation sequencing – library preparation, template preparation, and the sequencing methodology itself, whether by pyrophosphate detection, single base extension with reversible terminators, or probe addition by ligation. And single molecule sequencing’s attractiveness as a technology has been covered here, but here I’ll […]


Error, alignment, and the myth of the complete genome

The myth of the complete genome is something that is not commonly known to active observers of genomic technologies. (The term ‘active observer’ is from the point of view of one with varying degrees of background in the biological sciences, and is in noway an aspersion.) The ‘first draft’ of […]


Oxford Nanopore, the first nanopore-based sequencing technology

Oxford Nanopore, based in Oxford U.K., made a remarkable announcement that surprised many in February’s AGBT meeting in Marco Island. A GridION and MiniION single-molecule sequencers were announced, promising 15 minute runtimes, no sample preparation, and a disposable USB-stick sequencer for $900 (in the case of the MiniION), with 50kb […]


What’s so special about single molecule sequencing? 2

A few days ago I reviewed in brief the history of Helicos Biosciences (HCLS), a company that held out the promise of single molecule sequencing, but failed to deliver on several fronts to the next-generation sequencing market. (This would include accuracy, throughput per dollar, and ease of use / reliability […]


QIAGEN and NGS – the Intelligent Bio-Systems Acquisition 4

Recently I was asked what Roche would purchase when they said publicly that they “would not revisit Illumina, and will pursue smaller takeovers”, and I answered there were a few small development companies out there but even fewer with something ready to sell. (Roche isn’t known for development of NGS […]


Helicos Single Molecule Sequencing – A Pioneer 8

The next-generation sequencing market continues its downward trajectory – routinely violating Moore’s Law by an estimated 3x, the cost per megabase curve started to significantly bend downward around 2007 when the Solexa 1G started selling in volume, and gave the 454 GS20 (as it was known then) the first competition […]


What’s so special about a $1,000 genome?

In every technological revolution, there is a first seminal breakthrough, a burst of commercial activity from many individual companies, and then the eventual maturing of a market, of standards, and the discovery of new uses for the technology in often surprising ways.