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Myriad Genetics MyRisk, RiskScore

Myriad Genetics on Monday launched a new version of its MyRisk Hereditary Cancer test that provides a polygenic risk (PRS) score to all breast cancer patients regardless of their ancestry. The company's MyRisk next-generation sequencing test analyzes 35 genes associated with eight hereditary cancers. Meanwhile, RiskScore, the PRS test, analyzes 140 SNPs that together can enhance the breast cancer risk assessments from MyRisk. 

Since 2017, Myriad has been providing a RiskScore only to women who self-identified as having European and Ashkenazi Jewish ancestry, and who test negative on MyRisk for known high-risk cancer gene mutations. However, the company recently recalibrated RiskScore for all ancestries. "Women who previously took the MyRisk test since 2017 and were unable to benefit from RiskScore due to genetic ancestry, will now be offered the opportunity to have their risk assessment updated by Myriad Genetics free of charge," the company said in a statement.

With the pan-ancestry PRS added, the company is hoping to provide accurate breast cancer risk assessments to more women. Around 95 percent of women test negative for mutations in genes known to increase their predisposition for cancer, even though they still may be at increased risk for the disease. But now, the company estimates that more than half of the patients tested on MyRisk and RiskScore may qualify for increased screening or risk-reducing interventions.

NuProbe VarTrace MSI qPCR

NuProbe has released VarTrace MSI qPCR, a research-use-only assay for detection of DNA microsatellite instability from tissue or blood specimens. According to the company, its technology is designed to help overcome challenges of MSI qPCR including the unpredictable biochemical and biophysical properties of homopolymers. The VarTrace MSI qPCR assay features a lower limit of detection of 1 percent variant allele frequency.

SpeeDx PlexPrime SARS-CoV-2 Genotyping

SpeeDx has launched a SARS-CoV-2 variant analysis assay for research use only. The PlexPrime SARS-CoV-2 Alpha/Beta/Gamma+ assay is a single-well multiplex test designed to detect mutations N501Y, S982A, and E484K in the spike gene of SARS-CoV-2. These mutations are found in the alpha (B.1.1.7), beta (B.1.351), and gamma (P.1) variants of concern. The test is compatible with standard qPCR instrumentation. It can potentially reduce the manual process of preparing positive samples for sequence analysis by identifying samples of interest, ultimately reducing turnaround and hands-on time, the company said. The firm also plans to launch a multiplex assay for mutations related to the delta variant, and is currently assessing other mutations.

Bio-Techne RNAscope HiPlex V2 Assay

Bio-Techne announced the expansion of its Advanced Cell Diagnostics (ACD) RNAscope in situ hybridization technology portfolio with the release of the RNAscope HiPlex V2 assay for formalin-fixed paraffin-embedded (FFPE) and fixed and fresh frozen samples for up to 12 targets. 

Bio-Techne developed the RNAscope HiPlex V2 assay to enable deeper understanding of vital gene expression patterns at single-cell resolution, enabling researchers to generate precise gene expression data from 12 targets in FFPE samples and up to 48 targets in fresh and fixed frozen sample types. HiPlex V2 enables direct visualization of the transcript and eliminates the need for difficult bioinformatics methods for analyzing and interpreting scRNA-seq data, the company said.

3Billon 3Cnet

3billion has introduced 3Cnet, a pathogenicity prediction tool that runs on recurrent neural networks. 3Cnet, which takes its name from the 3C approach — conservation, clinical, and common — of analysis, reviews protein sequences against known variants in public databases including ClinGen and the Genome Aggregation Database (gnomAD) to determine pathogenicity. The Korean firm claims that the software produced a top-one recall rate of 14.5 percent for pathogenic variants in 111 cases diagnosed based on American College of Medical Genetics and Genomics guidelines. 

Applied Cells Mars Mag Cell Isolation Products

Santa Clara, California-based Applied Cells has released its Mars Mag product line for applications on the company's Mars sample preparation and cell isolation platform. Mars Mag are flexible magnetic labeling products that can isolated a wide range of cell types with high purity, recovery, and reproducibility, the company said. They include Mars anti-phycoerythrin magnetic nanobeads that reduce per-experiment cost and enable flexible and easy protocols for capturing and purifying any subpopulation of PE-labelled cells, the company said. The products are intended to improve cell enrichment in tumor biology, genomics analysis, and cell therapeutic development.

Paradigm4 Reveal: Multi-Omics

Paradigm4 has introduced Reveal: Multi-Omics, an app to help biopharmaceutical companies manage and analyze large sets of multiomic data. Reveal: Multi-Omics, built on top of the bioinformatics firm's SciDB database management platform, facilitates cross-study analyses and through rapid searches for genes and proteins across multiple public and proprietary datasets. The new app is an extension of Reveal, a translational informatics platform that Paradigm4 released in 2018.

Thermo Fisher Scientific Immune Repertoire Assays For Hemato-Oncology Research

Thermo Fisher Scientific has launched a new suite of research-use-only Ion Torrent Oncomine immune repertoire assays designed to detect potentially malignant clones of T cells and B cells. Using Ion AmpliSeq technology, the new Oncomine pan-clonality assays target multiple parts of the B- and T-cell immune receptors using a single reaction with ultra-high sensitivity, increasing the probability of malignant clone detection and decreasing time to results.

The new assays also overcome the challenge presented by current next-generation sequencing-based immune repertoire analysis of having to run multiple secondary tests due to the high test-failure rates, Thermo Fisher said. The assays uniquely target multiple parts of the receptor to reduce the need for secondary tests and increase the probability that a single assay can detect a potentially malignant clone.

The new suite of immune repertoire assays are available on the Ion GeneStudio S5 System and feature integrated analysis and data visualization tools that simplify the interpretation of results for laboratories and healthcare professionals, the company said.

Pataign BACLIB Rapid Lipid Extraction Kit

Pataign has introduced the research-use-only BACLIB Rapid Lipid Extraction Kit for microbial identification and colistin resistance detection, compatible with Bruker MALDI mass spectrometers. The kit can be used to identify bacterial species in about 30 minutes with a single assay involving less than a minute of hands-on time per sample, with no centrifugation or complex handling steps. The kit also identifies and determines colistin resistance for all the ESKAPE pathogens and includes access to custom software for ID/resistance determination.

10x Genomics Chromium X Platform

10x Genomics has announced pre-ordering for its Chromium X Series, a higher-throughput version of its single-cell analysis platform.

The Chromium X can deliver routine million-cell experiments at costs as low as $.02 per cell, according to the company. The firm expects instruments to ship later this quarter. The Chromium X Series is compatible with all of the company's existing low-throughput and standard single-cell assays and is supported by the 10x Genomics Cloud Analysis offering for data management, analysis, and collaboration. The series includes the Chromium iX, an instrument that runs tens of thousands of cells per run, but which can be upgraded to the higher-throughput model.

The Scan

And Back

The New York Times reports that missing SARS-CoV-2 genome sequences are back in a different database.

Lacks Family Hires Attorney

A lawyer for the family of Henrietta Lacks plans to seek compensation from pharmaceutical companies that have used her cancer cells in product development, the Baltimore Sun reports.

For the Unknown

The Associated Press reports that family members are calling on the US military to use new DNA analysis techniques to identify unknown sailors and Marines who were on the USS Arizona.

PLOS Papers on Congenital Heart Disease, COVID-19 Infection Host MicroRNAs, Multiple Malformation Mutations

In PLOS this week: new genes linked to congenital heart disease, microRNAs with altered expression in COVID-19, and more.