Some clarifications about Ion Torrent PII and NextSeq 500 2

Yesterday’s Ion Torrent Proton PII™ and Illumina NextSeq 500™ post certainly got a reaction from several quarters, including detailed pricing information about the 1x75bp format for the high-throughput configuration on the consumables. Instead of making edits to the original here are some clarifying points, as it is clear that Illumina […]

A Revolution in Prenatal Diagnostics 3

Every mother-to-be who has what is considered an ‘at-risk’ pregnancy is informed of the risks to the fetus of a genetic abnormality. ‘At-risk’ can involve a long list of medical conditions (diabetes or cancer for example) or poor health choices (illegal drug use or smoking). Yet a common cause of […]

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.