The 65th annual meeting of the American Society of Human Genomics (ASHG) was held October 6–10 in Baltimore, Maryland. The event attracted 7,866 attendees, including 6,242 scientific attendees (nonexhibitors), a 6.7% decrease from the 2014 show, which was held in San Diego, California (see IBO 10/31/15). Two hundred forty-three companies exhibited, compared with 240 last year.

A variety of new products were introduced at the show, including three new sequencers. At a Wednesday lunch seminar held by Thermo Fisher Scientific, Andy Felton, vice president of Product Management, presented the company’s new Ion Torrent systems. The Ion S5 systems are NGS platforms designed to deliver a comprehensive solution that simplifies targeted sequencing. At the seminar, Adam Ameur, PhD, Uppsala Genome Centre, highlighted the benefits of this instrument and promoted it as an easy-to-install “plug-and-play” cartridge-based system. This latest Ion Torrent system is optimized for sequencing multiplexed Ion AmpliSeq cancer research gene panels and now includes library construction, offering complete workflow solutions, from design to interpretation and confirmation. Thermo seeks broad adoption in translational and applied research, especially for reproductive genomics and inherited disease research. The Ion Torrent S5 is priced at $65,000. The Ion Torrent S5 XL system (upgradable from the Ion S5) has increased computing power and is priced at $135,000. Analysis takes five hours on the S5 and one-and-a-half hours on the S5 XL. These sequencing systems require 15 minutes of manual set-up time per sequencing run and less than 45 minutes of hands-on work from DNA to data when using the Ion Chef System for automated Ion AmpliSeq library construction, template preparation and chip loading.

In the evening, Pacific Biosciences held a press event to introduce its new sequencer, the Sequel System. The instrument provides higher throughput, more scalability, a reduced footprint and lower sequencing project costs compared to its predecessor, the PacBio RS II System, while maintaining the benefits of the company’s SMRT Technology. The Sequel System has been developed as part of the company’s collaboration with Roche to provide a sequencing system for use in human IVD (see IBO 9/30/13). The redesigned SMRT Cells contain one million zero-mode waveguides, providing about seven times higher throughput than the RS II. It is a third of the weight and size of the RS II yet delivers the same data quality (99.9% consensus accuracy). Limited shipments will begin in the US during the fourth quarter. The US list price for the Sequel System is $350,000. It is currently available for research use only.

Also debuting at the show was BGI/Complete Genomics’ Revolocity system, a fully automated sequencer for large-scale, high-quality whole genome (WGS) and whole exome sequencing. This system includes all of the components necessary to perform DNA extraction, library preparation, sequencing, assembly and variant calling. The company told IBO that it is focused on promoting the product for clinical applications (which represent all three orders thus far) but that they are also in talks with a research institute. The WGS end-to-end workflow from sample to variant calls has an on-instrument operational time of eight days or less. The WGS application delivers high-confidence data on small variants, CNVs and structural variants on 97% of the human genome at 50x average coverage. The Sequencer costs $12 million. The first units sold will be installed during the fourth quarter.

ASHG 2015 was also an important venue for the release of new cancer profiling panels. Illumina’s TruSight Tumor 15 OncoPanel uses NGS technology to provide a comprehensive assessment of 15 genes that are commonly mutated in solid tumors. TruSight Tumor 15 offers a sample-to-data solution for oncology research. It accurately detects low-frequency variants from 20 ng of starting DNA and is optimized for FFPE tumor tissue. Featuring a rapid workflow (going from DNA to data in approximately 36 hours), this panel offers a single assay for accurate and rapid analysis of solid tumors. The throughput is eight samples per run using the MiSeq v3 chemistry. It will ship in the fourth quarter.

NanoString Technologies’ nCounter SPRINT Profiler utilizes the same nCounter chemistry as the company’s other system, but with a smaller footprint and a sample throughput and cost attuned to the needs of individual researchers. The new system integrates sample preparation and analysis into a single instrument, minimizing manual steps, while further streamlining the overall workflow. The nCounter Cartridge’s microfluidic process can purify hybridized samples and collect data. Preparation of the hybridized samples takes 5 minutes, and the run time is 6 hours and 10 minutes. This product is priced at $149,000 and is currently shipping.

The nCounter RNA:Protein PanCancer Immune Profiling Panel is a multiplexed digital assay that simultaneously measures both RNA and protein expression. This product is designed for immuno-oncology researchers, particularly those focused on drug development. According to the firm, the technology is robust, reproducible and sensitive in detecting both RNA and protein in small amounts of tumor sample, with 800 RNA and protein measurements in as few as 150,000 cells. The assay is priced at $500 per sample.

BD Biosciences’ BD FACSseq is a high-throughput cell sorter designed for single-cell genomic studies. The sorting process can be performed at up to 7,000 cells/s, quickly discarding any dead or dying cells and then isolating targeted cells into PCR plates for customized targeted gene expression assays. The instrument is capable of measuring cell size in the range of 1–20 µm and up to three cell attributes, for a total of four parameters to select cells. Single cells can be collected into tubes, as well as 96- or 384-well PCR plates, in less than 30 seconds. The maximum acquisition throughput rate is 200,000 events/s, independent of the number of parameters. The combination of the BD FACSseq cell sorter and BD Precise molecular indexing assays (the result of BD’s acquisition of Cellular Research [see IBO 8/31/15]) provides a workflow from preparation of single cells through to NGS for gene expression studies.