NGS


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 […]


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 […]


Complete Genomics and the Whole Genome Sequencing market 3

Complete Genomics is a startup business founded upon a particular idea – that the whole genome sequencing of human individuals is going to be industrialized, commonplace, and have such clinical utility so as to become the dominant application for next-generation sequencing. (Disclosure – I have no financial interest in this […]


Next Generation Sequencing – Sequencing by Pyrophosphate Release

After preparation of the library (and careful quantitation) and preparation of the amplified template comes the main event: the sequencing itself. While there are several methods available, the methods can be divided into three broad divisions. The three divisions are (firstly) Pyrophosphate Release (named for the original patent by Mostafa […]


The whole-exome vs. whole-genome sequencing debate

An enterprising salesperson from Complete Genomics used this newfangled social media thing called LinkedIn to make her mark on the world (perhaps) by posing a discussion question. (It was over at the ‘Genome Interpretation‘ group in case you were wondering.) Entitled, “The last days of exome sequencing“, she posed the […]