Next Generation Technologist

Next Generation Sequencing from a unique point of view

August 2, 2012
by Dale Yuzuki
3 Comments

A Revolution in Prenatal Diagnostics

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 … Continue reading

July 30, 2012
by Dale Yuzuki
2 Comments

Sequencing the Immune Repertoire (T-Cell Receptor genes)

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 … Continue reading

July 14, 2012
by Dale Yuzuki
2 Comments

Complete Genomics’ Long Fragment Read Technology and Haplotype Phasing

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 … Continue reading

July 11, 2012
by Dale Yuzuki
2 Comments

An Overview of NGS Targeted Selection Methods and Marketplace

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 … Continue reading

July 5, 2012
by Dale Yuzuki
0 comments

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, … Continue reading

July 2, 2012
by Dale Yuzuki
0 comments

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 … Continue reading