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Aug 11, 2020

Centogene CentoMD 5.8

Centogene has released an update to its curated rare disease mutation database, CentoMD 5.8. This latest version includes more than 12.7 million unique variants, greater than 81,000 classified and curated variants, and over 199,000 individuals linked to HPO terms. Since December 2019, the number of cases in CentoMD has grown to more than 430,000, covering more than 120 countries.

Aug 07, 2020

Illumina NovaSeq 6000 v1.5 Reagent Kit

Illumina has launched a new NovaSeq 6000 reagent kit that the company said could reduce sequencing costs for a human genome to $600.

The v1.5 kit offers improved quality, with an average Q30 score above 85 percent for read lengths up to 2x150 bp. Additional cycles per kit enables full support for unique molecular identifiers. The kits also double shelf life — up to six months — and are compatible with the new Illumina DNA PCR-Free Prep kit.

Aug 07, 2020

NIST: SARS-CoV-2 Synthetic Gene Fragments

Researchers at the National Institute of Standards and Technology have produced synthetic gene fragments from SARS-CoV-2. Shipped in vials with a data sheet listing the concentration of fragments in the solution, the RNA fragments can be used to measure the sensitivity of tests for the coronavirus. They can also use the synthetic RNA to develop more sensitive tests or new kinds of tests, NIST said. Each solution contains about 1 million copies per microliter. NIST is releasing the synthetic RNA as a research grade test material while it expects to further develop it as a standard reference material. The material is free to researchers, test manufacturers, and testing labs. Technical information and instructions for requesting the material are available here.

Aug 06, 2020

GeneDx GenomeXpress

GeneDx, a subsidiary of BioReference Laboratories/Opko Health, has launched GenomeXpress, a rapid genome sequencing test. GenomeXpress includes both protein-coding and non-coding regions of the genome including promoter, intronic, and untranslated regions, enabling the detection of characterized/pathogenic variants in regions that are not assessed by exome sequencing. The company delivers a written report for all confirmed variants in known disease-causing genes to the ordering healthcare provider within approximately seven days after testing. It also provides a written report for all confirmed variants within approximately 14 days after the start of testing. 

Aug 04, 2020

Horizon Discovery Single Cell RNAseq-Linked CRISPR Screening Service

Horizon Discovery has added single cell RNAseq-linked pooled CRISPR screening to its CRISPR screening services portfolio. Coupling pooled CRISPR screening to single cell RNAseq allows the impact of CRISPR-based gene modification to be examined on a global transcriptomic scale at single cell resolution. The platform offers high-quality screening data and biological insight to address gaps in target identification and validation by integrating the effect of gene editing with complex gene expression mapping, the company said. 

Aug 04, 2020

Adaptive Biotechnologies ImmunoSeq T-Map COVID Service

Adaptive Biotechnologies has launched the immunoSeq T-Map COVID, a proprietary research product and data-analysis service to measure the T cell immune response to vaccines in development and track the persistence of that response over time.

The product leverages data from more than 1,000 patients to provide researchers with a quantitative map of T cell receptors and SARS-CoV-2 antigens that elicit an immune response. These data will be available through Adaptive's cloud-based immunoSeq Analyzer and is powered by ImmuneCode, an open database developed in partnership with Microsoft.

Aug 03, 2020

Cytek Biosciences cFluor Reagents

Flow cytometry firm Cytek Biosciences announced the launch cFluor reagents, short for "Cytek Fluorochrome," that are validated on the firm's Aurora and Northern Lights full spectrum cell analysis systems. The first batch of reagents includes cFluor YG584, cFluor B548, and cFluor R710 and allows users to reveal more from the full spectrum panel with a new option excitable by the yellow-green, blue, and red lasers respectively. Other dyes are coming soon, the firm said. 

Aug 03, 2020

Personalis NeXT Liquid Biopsy

Personalis has launched NeXT Liquid Biopsy, an exome-scale blood-based tumor-profiling assay for advanced-stage solid tumor cancer patients. According to the company, the test monitors over 20 times more genes than most targeted liquid biopsy panels on the market. Personalis believes its more comprehensive option can help biopharmaceutical companies advance their understanding of tumor biology, including resistance mechanisms, to aid in the development of next-generation cancer therapies. 
Jul 31, 2020

Myriad Genetics Amplify for Fetal Cell-Free DNA Sequencing

Myriad Genetics has launched Amplify, which sequences the fetal cell-free DNA fragments circulating in a mother's blood and increases the fetal fraction in a sample for non-invasive prenatal screening. The company is hoping that the technology will improve the performance of its Prequel NIPS test. The analytical validation of Amplify involved samples from more than 1,000 women and showed that the fetal fraction was 2.3 times greater on average compared to standard NIPS. The improvement reduces false positive and false negative results, including for common aneuploidies, expanded aneuploidies, microdeletions, and a baby's sex, Myriad noted. The company also said that the technology will reduce the number of sampels that fail to produce a result due to low fetal fraction and deliver results to 99.9 percent of patients. 

Jul 30, 2020

Diagenode, Alithea Genomics Mercurius Bulk RNA Sequencing Services

Diagenode, a firm providing epigenomics services and library prep products, has announced a new bulk 3' mRNA sequencing service, developed in collaboration with Alithea Genomics.

The service incorporates Alithea's Mercurius barcoding for high-throughput transcriptomics and can be scaled for large study cohorts.

Jul 29, 2020

HTG Molecular Diagnostics HTG EdgeSeq Pan B-Cell Lymphoma Panel

HTG Molecular Diagnostics has launched its HTG EdgeSeq Pan B-Cell Lymphoma Panel, which the firm said is designed to provide molecular characteriation of aggressive, indolent, and rare lymphomas. The research-use-only panel enables investigators to measure the expression of about 300 genes linked to the lymphoma transcriptome. The panel is available in kit form or as a service at HTG's VERI/O laboratory. 

Jul 28, 2020

Twist Bioscience RUO SARS-CoV-2 Antibody Panels

Twist Bioscience is offering two new SARS-CoV-2 antibody panels for research use only.

The Twist anti-SARS-CoV-2 S1 antibody panel includes 32s human antibodies that bind with picomolar to nanomolar affinity to the S1 spike protein of the virus that causes COVID-19. The Human anti-ACE2 panel includes 48 antibodies that bind to the extracellular domain of the ACE2 receptor on human cells, the protein that facilitates entry of the coronavirus into cells.

All antibodies are cloned into human antibody backbones to generate VHH Fc, IgG1, or IgG2 antibodies. Individual antibodies within the panel can be licensed for further therapeutic or diagnostic development.

Jul 22, 2020

Twist Bioscience Synthetic Controls for Respiratory Viruses

Twist Bioscience has added 16 new synthetic controls for common respiratory viruses with symptoms similar to COVID-19, including influenza H1N1, influenza H32N, influenza B, rhinovirus, enterovirus, and several human coronaviruses including a prevalent mutated strain of SARS-CoV-2 (D614G.)

Applications for the products include environmental testing, assay development and verification, and diagnostic test validation.

Twist's controls are designed based on specific viral variants, cover the full viral genomes and are sequence-verified. Controls for alternative viral variants are available as custom products. The firm said RNA synthetic controls should be delivered within two weeks of ordering.

Jul 20, 2020

Bio-Techne miRNAscope Assay

Bio-Techne announced the expansion of its RNAscope platform in the form of the miRNAscope Assay. The miRNAscope Assay extends the firm's RNAscope technology to enable the in situ detection of short nucleic acid targets between 17 and 50 nucleotides, which includes microRNAs and short synthetic oligonucleotide therapeutics such as small interfering RNAs and antisense oligonucleotides.

Jul 17, 2020

Cepheid Xpert MTB/XDR

Cepheid has launched an assay to detect extensively drug-resistant tuberculosis. The CE-IVD marked Xpert MTB/XDR test uses new 10-color technology and runs on recalibrated GeneXpert instruments. It can be used to rapidly detect resistance to isoniazid, ethionamide, fluoroquinolones, amikacin, kanamycin, and capreomycin directly from patient specimens.

Jul 17, 2020

BioMérieux BioFire Mycoplasma

BioMérieux has launched BioFire Mycoplasma, an assay to detect mycoplasma bacteria in pharmaceutical products. The test is now available in the US, and will be launched in some countries in Europe and the Asia-Pacific region in the coming months.

Jul 16, 2020

RareCyte Orion Instrument

RareCyte has launched a new spatial biology analysis platform called Orion. The system is based on a patented and proprietary microscopy technology that allows comprehensive phenotypic profiling and spatial analysis of the tissue microenvironment at what the company claims are much faster speeds and with more efficiency than existing technologies.

The platform includes the Orion instrument and associated TissuePlex reagents. The instrument images an entire pathology slide at high speed and high resolution in 21 fluorescence channels. Companion TissuePlex panels are shipped as customizable catalog labelling kits. Customers can also access the technology through RareCyte laboratory services and other specified programs.

Jul 15, 2020

Congenica Automation

Congenica has updated its clinical decision support platform by launching the Automated Classification of Known Variants product, Congenica Automation. This will provide automated classification as well as evidence and reporting of recurrent 'known' variants that customers observe in their rare disease cases. The new product aims to reduce interpretation and reporting time by 90 percent compared to the company's existing solution, so complex genomic data can be reported in as little as 5 minutes. For example, interpretation and reporting of 4,000 cases with recurrent pathogenic or likely pathogenic variants could be completed in 5 to 8 minutes for each case. Users of the new product can also create their own customized curated variant list to be used for the automated process.

Jul 14, 2020

10x Genomics Chromium Single Cell Immune Profiling v2

10x Genomics has launched the Chromium Single Cell Immune Profiling v2 product. It extends the capabilities of the original version, offering up to 60 percent increased gene detection sensitivity. The product can be used to characterize adaptive and innate immune cell diversity; identify and characterize rare cell types and biomarkers; analyze tissue microenvironment, disease progression, and drug immune response; perform large-scale antibody and TCR discovery for novel antigens; characterize immune responses to infection by measuring clonal expansions and immune cell phenotypes; and study genes and pathways with predesigned gene expression panels.

Jul 13, 2020

New England Biolabs RUO SARS-CoV-2 Rapid Colorimetric LAMP Assay Kit

New England Biolabs has launched a real-time loop-mediated isothermal amplifcation-based (RT-LAMP) assay kit to detect SARS-CoV-2. The research-use-only kit, called the SARS-CoV-2 Rapid Colorimetric LAMP Assay Kit, enables visual amplification detection using a simple heat source, with results in 30 minutes. The kit includes the firm's WarmStart Colorimetric LAMP 2X Master Mix with uracil-DNA glycosylase, a primer mix targeting the N and E regions of the SARS-CoV-2 genome, an internal control primer set and positive control template, as well as guanidine hydrochloride to increase the speed and sensitivity of the RT-LAMP reaction.

Jul 10, 2020

Bionano Genomics Bionano Prep SP Tissue and Tumor Kit

Bionano Genomics has launched the Bionano Prep SP Tissue and Tumor Kit, a DNA isolation kit for the analysis of tumors and tissues with the company's Saphyr system. The kit is designed to simplify the isolation of ultra-high molecular weight DNA from a variety of solid tumors and tissue types. DNA can be extracted in less than six hours from as little as 5 mg of fresh or frozen tissue. It was validated in bladder, lung, liver, kidney, colon, breast, prostate, brain, thyroid, ovary, testes, and uterus tissue.

Jul 08, 2020

Sema4 Signal

Sema4 has introduced Sema4 Signal, a line of bioinformatics tools and exome-based somatic and hereditary cancer genomic tests to support precision oncology care. The initial release, Sema4 Signal Hereditary Cancer, features a 112-gene panel and 16 subpanels, supported by customizable video education, analytics services, workflow tools, and genetic counseling. 

Jul 08, 2020

NIST SARS-CoV-2 Research-Grade Test Material

The National Institute of Standards and Technology has developed a reference material to aid in the evaluation and development of RT-qPCR assays for SARS-CoV-2. The reference material consists of two synthetic RNA fragments from the SARS-CoV-2 genome in a background of 5 ng/μL human Jurkat RNA (stored at –80° C, BSL-1). Fragment 1, which has a total length of 3,985 nucleotides, and includes SARS-CoV-2 sequence 25949-29698 of isolate USA-WA1/2020; and Fragment 2, which has a total length of 3,790 nucleotides and includes SARS-CoV-2 sequence 12409-15962 of isolate USA-WA1/2020.

NIST said the synthetic fragments can be used to assess limits of detection for SARS-CoV-2 assays or calibrate other in-house or commercial SARS-CoV-2 controls. NIST characterized the material by size and using multiple reverse transcription droplet-digital PCR and qPCR methods. The agency is making the material free of charge through funding from the Coronavirus Aid, Relief, and Economic Security Act, in exchange for user feedback to help improve and further develop the material. 

Jul 08, 2020

Illumina TruSight Software Suite

Illumina has launched the TruSight Software Suite for genetic disease testing using whole-genome sequencing. It enables sample-to-report analysis, allowing users to go from 5 million variants to a small number of candidates in a rapid and scalable way. The software suite, developed in collaboration with the Mayo Clinic and other experts and offered as a "software as a service" solution, promises to reduce test interpretation time from as much as several weeks to as little as a few hours. It is certified for HIPAA compliance, ISO 27001, and ISO 13485 and is built to enable data privacy and compliance with the principles of the European Union's General Data Protection Regulation.

Jul 07, 2020

Horizon Discovery Cas9, dCas9-VPR Cell Lines

Horizon Discovery has released its stably expressing Cas9 and dCas9-VPR cell lines to aid researchers in gene knockout and gene activation experiments, respectively. The cell lines are optimized to work alongside Horizon's Edit-R predesigned synthetic single-guide RNA and CRISPRa guide RNA, for complete, simple, and streamlined CRISPR gene editing and modulation workflows.

The Cas9 and dCas9-VPR stable cell lines were generated using Horizon's Edit-R Lentiviral particles with a blasticidin resistance cassette, and are provided in pooled format. The cell lines are QC verified and validated to ensure stable expression and functionality of Cas9 or dCas9-VPR endonuclease in a range of common cell backgrounds, the company said. Both cell lines are available in the same background to enable loss- and gain-of-function studies to be performed in parallel. 

Pages

A new analysis suggests warming, not the arrival of humans, led to the extinction of the woolly rhinoceros thousands of years ago, the Economist reports.

Chinese health officials uncovered SARS-CoV-2 viral RNA on imported frozen food, but the New York Times reports catching COVID-19 that way would be unlikely.

The UK has ordered 60 million coronavirus vaccine doses from Novavax and 30 million doses from Janssen, according to the Guardian.

In Science this week: machine learning model predicts whether ion channel mutations will cause disease, and more.