Marketing


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 […]


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 […]