Golden Helix VSClinical

Apr 09, 2018

Golden Helix announced today the upcoming commercial launch of its VSClinical in May 2018. VSClinical will help labs automate their clinical interpretation of variants based on ACMG guidelines. In addition, the firm claims that VSClinical will eliminate problems with human error and individual subjectivity, as well as reduce the time and effort required to sign off on clincal reports. 

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May 17, 2018

Precipio KRAS Liquid Biopsy Kits for Pancreatic Cancer

Precipio has launched two new research-use only ICEme kits for the detection of mutations in KRAS Exons 2 and 3 in pancreatic cancer. The kits use the company's proprietary ICE-COLD PCR liquid biopsy technology and are available for both qPCR and Sanger sequencing platforms. According to Precipio, its non-invasive, low-cost enrichment technology is well-suited for laboratories developing screening and monitoring tests. The kits will be priced at approximately $100 per specimen.

May 17, 2018

Bluebee Bluebase Assay

Bluebee has announced the release of its Bluebase assay, which is designed to run on the Bluebee core data analysis platform and provides post-sequencing intelligent data aggregation, ease of querying, and deep knowledge mining. The technology aggregates, organizes, and stores combined genomic data sets, phenotypes, and other metadata from a group of public and private databases. Bluebase allows for a range of applications, including discovery and validation of biomarkers, insight into patient stratification approaches, cross-study analyses by multidisciplinary teams, and identification of drug candidates for clinical trials. BlueBee noted that Bluebase is targeted toward diagnostic assay developers, pharmaceutical researchers, clinical trial operators, and investigators of population-scale initiatives. 

May 16, 2018

DDN Storage/Parabricks Genomic Analysis Platform

DDN Storage and Parabricks announced the availability of a jointly integrated technology platform that massively accelerates human genome analysis. The platform DDN's high-performance Parallel Flash Data Platforms and Parabricks' DNA Bricks application to deliver a "unified genomics analysis infrastructure that provides performance, simplicity, and flexibility for end users, the companies said. The new GPU and storage solution can analyze 1,500 genomes a week, accelerating precision medicine workflows by 100x, the companies said. For example, they noted that the platform can take an industry-standard pipeline, like GATK4, and shrink run time from more than 30 hours down to mere minutes.

May 16, 2018

Veracyte Afirma Xpression Atlas

Veracyte has launched its Afirma Xpression Atlas test for thyroid cancer. The test uses RNA sequencing to analyze 761 DNA variants and 130 RNA fusions in over 500 genes that have been linked to thyroid cancer. The test's aim is to provide information to help clinicians make surgery and treatment decisions for patients who have thyroid nodules.

May 15, 2018

Invivoscribe LymphoTrack Dx TRB Assay

InvivoScribe Technologies has released its LymphoTrack Dx TRB Assay for the Illumina MiSeq platform, a CE-marked next-generation sequencing kit for in vitro diagnostic use. The assay completes the menu of Invivoscribe's CE-marked clonality assays on the MiSeq, enabling small and large laboratories to identify and track clonal rearrangements.

May 14, 2018

Interpace Diagnostics ThyGeNext

Interpace Diagnostics said it is launching ThyGenNext, a mutational panel for indeterminate thyorid nodules, at the American Association of Clinical Endocrinologists annual meeting this week. ThyGeNext builds on the company's ThyGenX panel (launched in August 2014) by adding numerous molecular markers, gene mutations, and RNA fusions, resulting in a more comprehensive set of indicators to identify malignant or benign nodules and ascertain aggressiveness and other characteristics. Specifically, it uses next-generation sequencing to identify more than 150 genetic alterations assciated with papillary and follicular thyroid carcinomas, the two most common forms of thyroid cancer.

May 11, 2018

Oxford Nanopore MinKnow Software

Oxford Nanopore Technologies has released an updated version of its MinKnow software, which controls its MinIon, GridIon, and PromethIon sequencing platforms. Among other changes, the new version includes a feature called "progressive unblock," which helps increase the data yield of a flow cell, and active voltage control, which improves signal consistency during a run.

May 09, 2018

Karius NGS Pathogen Test

Karius has launched a quantitative version of its next-generation sequencing-based test that identifies microbial cell-free DNA in blood. According to the company, the test can identify DNA from more than 1,000 pathogens including bacteria, DNA viruses, fungi, mold, and protozoa.

May 08, 2018

Intermountain Healthcare RxMatch Comprehensive Panel

Intermountain Precision Genomics Core Laboratory said its RxMatch Comprehensive Panel has expanded to 97 gene targets from 36. Originally launched last September as an anti-depressent panel, it now includes opioids, statins, immunosuppresants, anti-depressants, and others. Patients provide a DNA sample with a cheek swab collected in a physician's office. Results are available within about a week. Intermountain Precision Genomics Core Laboratory is part of Intermountain Healthcare.

May 04, 2018

Bio-Rad Bio-Plex Pro Human Cytokine Screening Panel

Bio-Rad Laboratories has launched the Bio-Plex Pro Human Cytokine Screening Panel, a multiplex assay that can identify and quantify 48 different analytes linked to heart disease, autoimmunity and allergy, cancer, and other conditions.

The panel detects targets related to adaptive immunity cytokines, pro-inflammatory cytokines, and anti-inflammatory cytokines, all in a single well. It is available in a 96-well kit format that includes premixed magnetic capture beads and detection antibodies, multiplexed standards and controls, secondary antibodies for fluorescence detection, and buffers. The panel is compatible with the Bio-Plex MAGPIX Multiplex Reader, Bio-Plex 200 and Bio-Plex 3D Multiplex Immunoassay Systems, LX200 Instrument, and Flexmap 3D System, and data can be managed and analyzed using Bio-Plex Manager and Bio-Plex Data Pro Software.

May 02, 2018

PredicineATLAS

Predicine has launched a new liquid biopsy panel called PredicineATLAS, which covers 600 genes and offers a readout of patients tumor mutational burden to help inform and assess immuno-oncology treatment.

The assay will be available first for research use only though an early access program, but the company aims to at some point add a CLIA-certified version as well.

Apr 26, 2018

Agilent In Situ Hybridization Probes

Agilent Technologies introduced a number of in situ hybridization probes, including the EBER RNA CISH, Kappa, and Lambda mRNA CISH probes for Dako Omnis. Additionally, a manual IQFISH panel for lymphoma was launched following its CE marking. 

The EBER RNA CISH, Kappa, and Lambda mRNA CISH releases increase the diagnostic capabilities of the Dako Omnis instrument, which can now be used to simultaneously run tests involving CISH, FISH, and immunohistochemistry. Meanwhile, the IQFISH panel is a set of oligonucleotide-based FISH probes for detecting rearrangements involving the MYC, CBL2, BCL6, MALT1, CCND1, and IGH genes. The probes are for use on formalin-fixed, paraffin-embedded tissue sections, Agilent said, adding they are available in break-apart and dual-fusion methodologies.

Apr 25, 2018

HiberGene HG Pneumo/Meningo Combo

HiberGene has launched the HG Pneumo/Meningo Combo test for the rapid detection of meningococcal and pneumococccal meningitis. The loop-mediated isothermal amplification-based test covers up to 90 percent of cases of bacterial meningitis and provides results in less than one hour, compared to traditional microbiological methods which can take between 24 and 48 hours, the company said. Samples are incubated and read on HiberGene's HG Swift instrument. 

Apr 23, 2018

Swift Biosciences Accel-Amplicon Plus Cancer NGS Panels

Swift Biosciences has launched a suite of nine tumor-specific gene panels using its Accel-Amplicon technology. The Accel-Amplicon Plus Cancer NGS Panels enable detection of SNVs, copy number variants, and small indels. The company has launched four disease-focused panels for colorectal cancer, Lynch syndrome, lung cancer, and myeloid malignancies. In addition, it has also launched five gene panels, including one that focuses on comprehensive coverage of the TP53 gene, two BRCA-focused panels, an EGFR panel, and a pan-cancer panel. The panels are compatible with Illumina's sequencing instruments. Just 10 nanograms of sample input are required, and sample inputs can include DNA from formalin-fixed paraffin-embedded tissue and fine needle aspirates, as well as cell-free DNA. In addition, Swift has also launched its Swift Bioinformatics Resources, which include both open source and commercial bioinformatics tools to analyze NGS data.

Apr 23, 2018

Siemens Healthineers Fast Track Cycler, FastFinder Software

Fast Track Diagnostics, a Siemens Healthineers company, launched the Fast Track Cycler molecular testing platform and complementary FastFinder software at the European Congress of Clinical Microbiology and Infectious Diseases. 

The Fast Track cycler, for research use only, is a compact thermocycler weighing about 2 kg and measuring about 150mm3. It uses magnetic induction technology and does not require calibration. It also is equipped with Fast Track lyophilized PCR reagents, enabling users to simply add nucleic acid extracts to prepared tubes before placing them in the cycler. Up to 10 thermocyclers can be connected to one computer, and labs can use a range of one to 480 wells.

The FastFinder software, developed in collaboration with UgenTec, is a fully automated, CE IVD-marked real-time PCR interpretation platform compatible with all Fast Track multiplexed PCR kits. The software allows users to fully automate and standardize analysis of kits on the Thermo Fisher Scientific ABI 7500 and Roche LightCycler 480 PCR platforms. The software features statistical machine learning to accurately analyze all amplications curves, automatically recombining the results and processing them through an assay-specific decision tree to product a final result.

Genetic genealogy has led to an arrest in another cold case, dating back to 1987.

Magdalena Skipper, the incoming editor-in-chief of Nature, speaks with NPR's Weekend Edition Sunday.

In PLOS this week: mutation in second gene widens clinical symptoms of people with ADD3 mutations, comparative genomic analysis of Pseudovibrio, and more.

Wired reports that 23andMe is trying to bolster its outside collaborations.