Sequencing the Immune Repertoire (T-Cell Receptor genes) 2

Immunology is a fascinating subject. Immense in its complexity, debilitating when the immune system malfunctions, our ability to fend off bacterial and viral infection, cancers of different types, and other foreign invaders is a remarkable biological capability. The NIH estimates 24M Americans are affected with an autoimmune disorder, but that […]

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.

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 […]