Sequencing

Company Announcements

In September, Thermo Fisher Scientific signed an agreement with the Institute of Pathology Heidelberg to establish the Center of Molecular Pathology at Heidelberg University Hospital as the newest member of its Next Generation Sequencing Companion Dx Center of Excellence Program (see IBO 8/31/17).

Paragon Genomics, the provider of CleanPlex NGS library preparation technology, closed an oversubscribed Series A funding round in September. The round was led by Cowin Venture Capital and Fosun Industrial.

Fabric Genomics partnered with Genome Medical, a genomics medical practice, in September with the goal of bringing expert medical interpretation and counseling around genomic data directly to physicians and patients.

In September, Advanced Analytical Technologies partnered with Illumina to support collaborations and co-marketing activities for quality assessment of nucleic acids in Illumina’s NGS workflows.

SOPHiA GENETICS closed a $30 million Series D funding round, led by Balderton Capital, in September. The company’s SOPHiA Artificial Intelligence platform analyzes and detects all types of genomic variants. SOPHiA is used daily by 334 hospitals.

Edico Genome announced in September the commercial deployment of its DRAGEN-Bio-IT Platform on Amazon Web Services Marketplace.

Also in September, Edico Genome announced the availability of the DRAGEN-Bio-IT Platform on Illumina’s BaseSpace Sequence Hub. It will launch several additional pipelines on Hub later this year.

In September, PerkinElmer announced a collaboration with In-Depth Genomics (IDG) to support IDG’s Whole Genome Sequencing Diagnostic Program for neurology patients by providing sequencing, interpretation services and diagnostic report generation. The Program will be offered to US physicians at no cost to the patient. The plan is to sequence one hundred thousand genomes of patients who suffer from rare and undiagnosed conditions.

1CellBiO signed a reseller and license agreement with Hangzhou Chengyuan Genomics in September. 1CellBiO sells the inDrop instrument for high-resolution single-cell RNA sequencing, as well as kits and consumables.

In October, Swift Biosciences announced the opening of a new office in the San Francisco Bay Area. The company also opened a new, expanded headquarters in Michigan, which doubles its R&D and manufacturing space.

QIAGEN announced in October a collaboration and comarketing agreement with CENTOGENE, which provides genetic diagnostics for rare diseases. The companies will integrate their respective bioinformatics offerings and CentoMD rare disease variant database. QIAGEN will exclusively distribute the database.

In October, Pacific Biosciences announced the integration of its de novo assembly pipeline on to the Bluebee genomics analysis platform, providing fully automated, end-to-end data analysis solution.

Oxford Nanopore announced in October plans to open an office in Shanghai, China, this year. The company’s current presence in the country includes customers such as GrandOmics, CookGene and Simcere Diagnostics.

 

Product Introductions

Dolomite Bio introduced in September the DroNc-Seq1 chip for high-throughput single-nucleus RNA-Seq using droplet microfluidics. It is compatible with the company’s Single Cell RNA-Seq System.

In September, PerkinElmer expanded its Whole Genome Sequencing (WGS) services to families that preserve their cord blood and cord tissue with ViaCord. The WGS test examines disease-related genes and provides diagnostic findings contributing to pediatric onset diseases, as well as reporting pharmacogenetic variants used to optimize certain drug selections.

BC Platforms released in September the BC|Request platform for browsing and analytics of genomic and clinical data that has been aggregated across biobanks. The platform streamlines collaboration between biobanks and the pharmaceutical industry. Data is indexed and accessed through the Microsoft Azure cloud platform. BC|Request will be used by members of the Open Biobank Research Enhancement Alliance, formed by BC Platforms.

PierianDx announced in September that its Clinical Genomicist Workspace now supports clinical microarray technology.

In September, Horizon Discovery released the OncoSpan novel cell line–derived multiplex DNA Reference Standard, which supports the validation of NGS assays. It features 386 variants across 152 key cancer genes. The company is also offering an online companion NGS QC solution, OncoMatic, developed in partnership with Euformatics.

Lexogen introduced in September the SLAMseq (thiol (SH)-Linked Alkylation for the Metabolic Sequencing of RNA) product family for high-throughput metabolic sequencing of RNA. SLAMseq can differentiate between nascent RNA and existing RNA, allowing for parallel quantification of total and newly synthesized RNA levels without the need for biochemical isolation. Sampling at different time points reveals the complete in vivo and transcriptome-wide kinetics of RNA synthesis and degradation.

In October, NuGEN Technologies debuted a new line of indexing solutions designed to take full advantage of Illumina’s new NovaSeq system. The three enhancements include 96 unique dual index pairs to address index hopping, the incorporation of molecular tags to accurately measure PCR duplication levels and a new Metaplex Module designed to scale multiplexing to thousands of samples per flow cell.

Illumina launched in October Nextera DNA Flex for whole-genome sequencing library preparation. Using On-Bead Tagmentation, the workflow eliminates the need for mechanical fragmentation of DNA, as well as quantification and normalization, with a total library preparation turnaround time of less than three hours. The technique enables direct input of blood and saliva samples, and supports 1–500 ng input from multiple types of genomes.

In October, DNAnexus unveiled the DNAnexus CloudSeq solution, designed to support the informatics infrastructure needs of the Illumina NovaSeq Series of Sequencing Systems. It features a fixed pricing model.

In October, iGenomX released the low-cost, scalable Riptide High-Throughput Rapid Library Prep solution, which enables users to create up to 960 high-quality NGS libraries faster. It is intended for use on small genomes and synthetic DNA constructs.

PierianDx introduced in October a complete technology and medical interpretation solution to support Illumina’s TruSight Tumor 170 (TST170).

In October, 10x Genomics announced an automation solution for whole-genome and exome sequencing developed in collaboration with PerkinElmer. The workflow allows Linked-Read sequencing to be performed on saliva as well as dried blood spot. The solution includes PerkinElmer’s chemagic nucleic acid extraction technology and Sciclone automation platform, and 10x’s Chromium Genome and Exome Solutions.

Swift Biosciences introduced the Accel-Amplicon Custom NGS Panels, a targeted DNA sequencing product that enables clinical researchers to rapidly design highly focused panels to discover, validate and screen disease genes and their variants. The Panels require only 10 ng sample input and offer a library prep workflow time of under 2 hours. They are supported on Ion Torrent or Illumina platforms. The offering is the result of a collaboration with software firm Genialis.

 

Orders/Sales of Note

In September, Congenica announced a customer partnership with Coimbra Paediatric Hospital in Portugal for analysis of whole-exome sequencing data and the production of diagnostic reports for the In2Genome national project.

10x Genomics announced in September that the Genome 10K Consortium selected its Chromium de novo Assembly Solution and consumables reagents to sequence the next phase of the initiative at The Vertebrate Genome Lab (VGP) at Rockefeller University. The VGP aims to create reference quality genome assemblies of 260 species representing all vertebrate orders. The Consortium also plans to use 10x’s Single Cell 3’ Solution to study neuronal cell-type diversity.

In October, 10x Genomics announced the use of its Chromium Exome Solution as part of the Faroe Genome Project, a population sequencing project of the Faroe Island Native people.

In September, QIAGEN Biotechnology Malaysia announced the installation of a GeneReader NGS System at digital health care solutions firm Pathomics Health, the first installation of the System in Malaysia.

The University of Edinburgh’s Edinburgh Genomics facility in Scotland announced in September the use of Illumina’s NovaSeq platform. This is the first site in Scotland to deploy the NovaSeq.

In October, Edico Genome announced the first deployment in Africa of its first DRAGEN Bio-IT platform at the Centre for Proteomic and Genomic Research in South Africa.

SOPHiA GENETICS announced in October that six health care institutions in Mexico have adopted its SOPHiA DDM platform for clinical genomics analysis.

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