The next NGS platform – the QIAGEN GeneReader™

The QIAGEN GeneReader at AACR (April 2013)
The QIAGEN GeneReader at AACR (April 2013)

Earlier this year at the February AGBT Conference, a person from QIAGEN came over to the Ion Torrent suite and asked me a few questions about the Ion Proton and in particular the upcoming Ion Chef unit. (The Ion Chef for those not familiar with it can replace the OneTouch 2 automated template preparation instrument with another one that will not only perform the emulsion PCR but also enrich the ion sphere particles, and load the chips as well.)

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The Ion Torrent Proton at Advances in Genome Biology and Technology AGBT

Ion Torrent Bus AGBT Marco Island
The Ion Bus on the beach at AGBT Marco Island FL

This week the annual Advances in Genome Biology and Technology (AGBT) meeting is being held, as it usually is, in Marco Island Florida. As a Gulf Coast resort area complete with white sand beaches and thatched hut shade, Marco Island every February has been one of the ‘must attend’ conferences for those who want to know what the current leading-edge research techniques and methods are using next-generation sequencing. And for the vendors, it is a non-stop week of activity. (One person on Twitter called it the ‘Detroit Auto Show of Genomics’.)

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Seeing shades of the future: NGS and Personalized Medicine

doctor stethoscope
Photo courtesy of Alex Proimos via Flickr

In the world of NGS a sea-change is occurring, and that is the shift to clinical applications of this technology to personalized medicine. It seems like a long time ago and it was only in 2005 when the Roche / 454 GS-20 first started appearing in genomics laboratories, and 2007 when the Solexa 1G first appeared. I was involved with some of the earliest adopters of NGS into clinical genetics laboratories way going back go 2008 and 2009 – these groups were quick to realize the potential of the technology, undertaking the risk of a very fast-changing technology, with regular changes to systems, reagents, protocols and software, all of which militate against adoption into a regulated laboratory-developed test environment.

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Single molecule in-situ RNA startup Advanced Cell Diagnostics

Biopsy of skin sample courtesy of euthman via Flickr
Biopsy of skin sample courtesy of euthman via Flickr

FFPE (Formalin-fixed paraffin embedded) tissues are standard preparations in the clinical world. It has been estimated that there are millions of FFPE samples stored in countless hospital laboratories and research pathology groups, all part of a standard operating procedure among pathologists and other hospital personnel. These tissue samples are embedded in paraffin blocks for indefinite room-temperature storage and are easily handled, and standard staining and microscopy techniques can then be employed to determine cancer stage, for example.

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Moleculo and Haplotype Phasing

A picture of a robot toy (sorry, my kids do not have a toy that looks like the ‘Moleculo Man’ of Conan OBrien from 2001…)

A few weeks ago at the J.P. Morgan Healthcare Summit in San Francisco, Illumina announced that they acquired a startup company called Moleculo that provides virtual long reads of 8 to 10kb. Single molecule sequencing will provide long reads (Pacific Bioscience’s RS will now go out to 5kb, although the platform is hampered by poor accuracy), and I’ve written before about last summer’s accomplishment by Complete Genomics in publishing their Long Fragment Read technology of phased reads on the order of 100kb. (And do take a look there to see why haplotype phasing is important.)

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BioNano Genomics explores Copy Number Variation

The Irys system in the BioNano Genomics booth. Note the small chips in the lower right corner, about 3″ square, with three input/output ports to accommodate three samples.

ASHG 2012 in San Francisco is finally over! The exhibit booths get torn down, the equipment gets packed up and shipped to storage, and hundreds of foot-weary front-line soldiers get back to their normal routines, whether in sales, marketing, product development, R&D or product management.

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Oxford Nanopore and commercialization at ASHG 2012

Clive Brown (left) showing the minION at their ASHG 2012 booth. Matthew Hickenbotham, colleague at Life Technologies, at right.

Here at ASHG 2012 in San Francisco this week, a ton of activity around the exhibitors, and Life Technologies does not disappoint with the Ion Bus on the show floor, an open 20 foot x 30 foot booth, a new digital PCR instrument (the QuantStudio 3D) introduced, two luncheon workshops, an Ion Torrent User Group meeting, a special SF Museum of Modern Art event on one evening, and an Ion Lounge evening event on the other. (These last two events were described internally as ‘networking only’, which is a code-word for a great social event.)

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Readlengths do matter in Next Generation Sequencing

Notebook cover from AGBT 2009 (c) Dale Yuzuki

Recently I was asked about how important readlengths are, in the context of where MiSeq and Ion Torrent PGM currently stand in the marketplace. As the 454 advertisement used to say until recently, ‘Length Matters’. Given a number of recent announcements from Ion Torrent and the other folks in San Diego, let’s assess where we are.

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The Ion Torrent Proton at Ion World

Screen capture of Chad Nusbaum, courtesy of YouTube.

Product launches are exciting things, and the Ion Torrent Proton has officially launched (as of the recent Ion World conference September 13-14, 2012). For those who were not able to make it to San Francisco for that two-day event, we now have the videos of four presentations up on the Ion Torrent YouTube channel, and for those who have complained about the ‘lack of data from the Ion Proton’ there’s quite a lot of ground to cover, and there’s a fair amount of interesting items about the PGM too. The Ion World-specific list of videos are linked here on an Ion Torrent Community page for ease of reference.

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A busy tradeshow season and 1 in a million PCR sensitivity

Image courtesy of philmanker via Flikr.

Attending any conference as a vendor is a busy time. Anyone who works in the life sciences vendor segment in commercial (i.e. customer-facing) marketing will understand that traveling to a few tradeshows in a year is a part of the job, and often an enjoyable part of the job at that. (Imagine a company-paid expensive hotel in a cosmopolitan North American or European city’s downtown nightlife district, early-morning through late-night activity that may include a nice dinner, company social events for customers and prospects, being on your feet in a 10-foot tradeshow booth engaging customers and prospects in real-time, sharing and receiving information in a constant stream in a time-limited way, and you get the general idea.)

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