Trends in Sequencing

Announcements from the JP Morgan Healthcare Conference

The 35th Annual JP Morgan Healthcare conference was held last week in San Francisco. It kicked off with a keynote by Bill Gates, and was filled with exciting announcements and discussions about global health and the scientific and technical innovations that make advancing precision medicine possible. Over 400 companies were on hand to discuss their scientific innovations.

Sequencing Advances and the Platform for Science

We have included a list of some of our favorite announcements and how you can leverage the Platform for Science (PFS) to take advantage of these advances.

Thermo Fisher Scientific and Illumina Partner to Provide Greater Access to AmpliSeq Technology[1]

AmpliSeq is a PCR-based method for targeted sequencing applications. This library prep workflow streamlines the target capture process with less hands-on time at the bench. The method is also more adaptable to automation, especially with the Ion Chef System which automates library preparation, template preparation, and chip load for the Ion Torrent fleet of sequencers.

Illumina platform users can now take advantage of the AmpliSeq technology and the reduce the hands-on time needed for prepping their libraries for targeted sequencing. Users will benefit from access to ready-to-use panel content for oncology, exome and transcriptome. They can also create their own custom panels or leverage panels designed by the community.

PFS App Solution

The modularity of the Platform for Science Marketplace applications enables current and new customers to leverage the Ion AmpliSeq Library Prep Application and seamlessly incorporate it into their Illumina Sequencing workflows for-end to-end sample tracking.

Thermo Fisher Scientific Adds New Sequencers to Its Fleet and Enhances AmpliSeq Technology[2]

Thermo Fisher Scientific announced the upcoming release of the AmpliSeq HD technology, which is an upgraded chemistry of its trademark AmpliSeq Targeted Sequencing library prep chemistry. The new HD chemistry provides more flexibility for oncology applications, especially for samples derived from FFPE or from liquid biopsies.

Thermo Fisher also announced the addition of new sequencers to its portfolio, the Ion GeneStudio S5 Prime and the Ion GeneStudio S5 Plus. The instruments offer greater sequencing throughput and faster analysis turnaround.

PFS App Solution

Adding new instruments to laboratory informatics platform can be cumbersome, time consuming, and often requires custom code. The configurability of the Platform for Science enables labs to quickly add these new instruments into their existing workflows. As part of Thermo Fisher we will continue to support the latest advancements from Thermo Fisher and other vendors.

The Ion Template Preparation & Sequencing Application supports run set up and planned run generation for these new sequencers today. In addition, the Marketplace Ion AmpliSeq Library Preparation App has been configured to enable labs to rapidly expand and modify their assays to track different panels, reagents and protocols. Users can take advantage of this marketplace app for tracking their AmpliSeq HD library prep.

Illumina Launches New Desktop Sequencer[3]

It's the newest sequencer to the Illumina’s fleet-- the iSeq 100 Sequencing System. The sequencer is the smallest and most affordable sequencer in the Illumina portfolio, allowing for broader access and adoption of sequencing. Sequencing run set-up has been simplified with the inclusion of a cartridge-based system. The cartridge can be loaded with the sample and flow cell, and then put directly into the instrument.

PFS App Solution

The introduction of new instruments and workflows to a lab often require slow and time-consuming modifications to informatics software. The Platform for Science Marketplace Illumina Solution, which contains the Illumina Flow Cell Prep and Sequencing Application, is iSeq 100 ready, and supports run set-up and sample sheet generation out of the box.

10x Genomics Announces New Product for Immuno-Oncology Applications[4][5]

10x Genomics announced a new product which will provide "single cell resolution for millions of T-cell receptors per sample." Future products in the pipeline will focus on functional genomics at the single-cell level.

PFS App Solution

The newly released Platform for Science Marketplace application, 10x Genomics Chromium Single Cell Library Preparation for the Illumina sequencing platform, supports the existing products for Chromium Single cell 3' v1, v2 and V(D)J Solutions. The adaptability of the PFS Marketplace library prep application allows for rapid expansion to include new single cell applications. It is suitable for plug and play use as 10x Genomics aims to expand its capabilities to other sequencing platforms such as the MGI (a subsidiary of BGI) fleet of sequencers.

Genomics Applications in the Lab

The modularity and flexibility of Marketplace applications in creating solutions on the Platform for Science, will enable adopters of these new technologies to move forward quickly with their research.

All Marketplace applications work out-of-the-box on the Platform for Science. Core’s apps are built to work together, ensuring end-to-end sample and sample tracking across experiments, assays, and processes. The modular applications enable workflow flexibility, allowing labs to quickly incorporate new or altered workflows or technologies.


Nicole Rose is the Senior Application Manager, Precision Medicine at Core Informatics, part of Thermo Fisher Scientific. Prior to Core she spent six years sequencing within R&D/Technical Support at 454 Life Sciences, A Roche Company. She as a background in molecular and cell biology with additional focus on applied genomics.

[1] https://www.businesswire.com/news/home/20180108006946/en/

[2] https://www.genomeweb.com/sequencing/thermo-fisher-launches-new-sequencing-instruments-readies-clinical-mass-spec-system

[3] http://www.bio-itworld.com/2018/01/08/illumina-announces-iseq-100-thermo-fisher-partership.aspx

[4] https://www.genomeweb.com/molecular-diagnostics/jpm-healthcare-day-two-10x-genomics-foundation-med-quidel-hologic-labcorp

[5] https://www.10xgenomics.com/news/mgi-genetic-sequencer-certified-new-10x-genomics-compatible-program/