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Science  17 Jun 2016:
Vol. 352, Issue 6292, pp. 1479
DOI: 10.1126/science.352.6292.1479-a

PCR System

The CE-IVD marked QX200 Droplet Digital PCR (ddPCR) System can be used for highly accurate diagnostic detection and quantification of nucleic acids, aiding clinical decision-making in the treatment of diseases ranging from cancer to transplant rejection and viral infection. The system includes a QX200 Droplet Generator, QX200 Droplet Reader, and QuantaSoft software. The droplet generator and reader are CE-IVD (European Conformity-in vitro diagnostic) marked for use in the European Union for in vitro diagnostics, and are the only digital PCR instruments available for use in a clinical laboratory. The QX200 Droplet Generator is used to partition a ddPCR reaction mixture into thousands of nanoliter-sized droplets. After endpoint PCR on a thermal cycler, droplets are read individually as they are streamed single file past a two-color optical detection system on the QX200 Droplet Reader. The PCR-positive and PCR-negative droplets are counted to provide absolute quantification of target DNA.

Genotyping Software

GeneMarker software version 2.6.7 incorporates several enhanced and automated quality alerts for trisomy, multiplex ligation-dependent probe amplification (MLPA), and microsatellite instability analysis. The automated alerts in the form of pop‐up windows, which include those recommended by MLPA kit manufacturer MRC-Holland, inform users when sequencing failures such as saturation or quality control fragment failure have been detected by the software. In the event the user overrides the alert, the particular failure will still be indicated on the final analysis report. Additionally, the latest version includes the ability to automatically export completed analysis projects to a common folder on the user's intranet, as well as new .pdf file electronic-reporting capabilities to provide paperless saving of analysis results. GeneMarker software is compatible with Windows OS 7–10, commercial and custom chemistries, and data files from all major capillary electrophoresis sequencing platforms, including Thermo Fisher Scientific, Beckman Coulter, and Gel Company's MegaBACE.

DNA Synthesis Platform

A novel multiplex DNA assembly approach scales the manufacture of synthetic DNA by nearly two orders of magnitude. Gen9 has applied this technology to long-length DNA construction, building 50 gene-length DNA constructs simultaneously in a single reaction. Comprising advancements in software, chemistry, and biology, multiplexing technology will be applied to Gen9's BioFab next-generation DNA synthesis platform over the next 12 months. The BioFab platform is the first and only industrialized, chip-based manufacturing technology for DNA synthesis and assembly. This first-of-its-kind advancement will also narrow the DNA read-write gap, allowing scientists to leverage DNA sequence information to discover the next generation of breakthroughs in therapeutics, biofuels, chemicals, and more. The BioFab platform makes manual, time-consuming PCR cloning methods for working with DNA obsolete. BioFab enables scientists to get to their answers faster by designing, building, and testing many sequences at once, rather than serially.

Microinjection-Ready Cas9

Microinjection-ready Cas9 Accelerate Ribonucleoprotein (RNP) adds to Horizon's existing collection of reagents for gene editing of animal models. Cas9 Accelerate RNP maximizes gene editing efficiency by enabling CRISPR reagents to sidestep the transcription and translation steps that traditional CRISPR-Cas9 plasmid and messenger RNA formats must complete before being activated, thereby maximizing gene editing efficiency and lowering the risk of off-target effects. Horizon's collection of microinjection-ready CRISPR reagents represent expertly designed, rigorously validated, fast-acting, and efficient gene editing tools. Horizon Discovery uses the same optimized single guide RNA and Cas9 Accelerate RNP premixed formulation for its in-house, custom animal-model generation service.

CGH Labeling Kit

The CYTAG TotalCGH Labeling Kit contains a complete set of reagents to prepare and label DNA for hybridization to a comparative genomic hybridization and single nucleotide polymorphism (CGH+SNP) array. The kit is compatible with both CGH arrays and CGH+SNP arrays and includes the CYTAG CGH Labeling Kit, restriction enzymes AluI and RsaI, and PCR and gel cleanup columns. The CGH+SNP array enables detection of genomic aberrations associated with copy number variations, but it can also detect copy-neutral aberrations, such as loss of heterozygosity and uniparental disomy. The array is a robust method to detect chromosomal abnormalities and enables rapid screening of the entire genome, as well as detection of variation at a single nucleotide. The CYTAG TotalCGH Labeling Kit delivers low-derivative log ratio scores, assuring more confident aberrant calls and fewer failed runs than other methods can deliver. The kit works with most common dye-based arrays and has been validated on multiple scanning platforms.

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