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Apr 04, 2019

Emedgene Automated Evidence Retrieval

Emedgene has added automated evidence retrieval to its genetic interpretation platform. The new feature relies on natural-language processing to extract knowledge and medical evidence from unstructured text in medical literature. By combining NLP with machine learning, the Emedgene platform can provide actionable insights instead of just search results, the company said.

Apr 02, 2019

Progenity Resura Prenatal Test for Monogenic Disease; Innatal Prenatal Screen

Progenity has launched the Resura prenatal test for monogenic disease, a customizable, noninvasive prenatal test (NIPT) for single-gene disorders. The test is available to families with known risk for monogenic disease such as cystic fibrosis, sickle cell anemia, and Tay-Sachs disease. The test, which was developed using droplet digital PCR, uses fetal cell-free DNA extracted from a sample of the mother's blood, and can be performed on disease-causing variants of all inheritance types, including recessive, dominant, and X-linked genetic mutations.

Progenity also announced improvements to its Innatal prenatal screen, a NIPT for chromosomal aneuploidies that now provides greater specificity and sensitivity in evaluating aneuploidy across all chromosomes. Specifically, the sequencing-based test has been enhanced in terms of detecting aneuploidies in chromosomes 21, 18, 13, X, and Y, the company said.

Apr 02, 2019

PerkinElmer, Helix GenePrism:Actionable Insights

PerkinElmer and Helix have launched GenePrism:Actionable Insights, a genetic screening test that they said is the "most comprehensive clinical grade DNA sequencing and interpretation" test currently on the market. The test allows users to learn about their risk for underlying diseases. A user's DNA will be sequenced by Helix and the results will be interpreted by board-certified geneticists at PerkinElmer Genomics using ordered data interpretation network, that firm's proprietary high-throughput software platform. In comparison to other commercial firms that look at a limited number of letters in a gene sequence, GenePrism:Actionable Insights assesses each of 59 genes in its entirety, including BRCA1/2, the partners said. They also noted that PerkinElmer Genomics maintains one of the largest databases of known genetic variations from different ancestries globally providing customers with a more in-depth assessment. 

Apr 02, 2019

Agilent Technologies 4150 TapeStation System

Agilent Technologies has launched the 4150 TapeStation system for laboratories as a more affordable, low-throughput option for analyzing the quality of RNA and DNA samples. The new instrument provides automated electrophoresis and extends Agilent's ScreenTape technology to smaller biobanks that need to provide information about sample integrity. The 4150 TapeStation system is also compatible with Agilent's complete portfolio of all DNA and RNA assays which also run on the higher throughput 4200 TapeStation instrument, the firm added.

Apr 01, 2019

BGI Oseq Hereditary Cancer Panel

BGI Americas has launched the Oseq Hereditary Cancer Panel (HGP), an assay that is designed to identify known and emerging tumor biomarkers for 17 cancer types and to support clinical trials of anti-cancer drugs. The panel, which runs on the MGISEQ-2000, Illumina HiSeq 2500, and Illumina HiSeq 4000 systems, looks for germline variants in the exons of up to 115 target genes. It covers mutations in the BRCA 1/2 genes that are contained in the proprietary BGI Hereditary Cancer Genetic Database v1.0, which integrates results from more than 30,000 clinical tests. The assay has been clinically validated in BGI's CAP-accredited and CLIA-certified Hong Kong laboratory and is currently being reviewed for accelerated IVD approval by the China National Medical Products Administration.

Apr 01, 2019

Canopy Biosciences RareSeq

Canopy Biosciences has launched its RareSeq error corrected sequencing service. The technology removes errors generated during next generation sequencing to separate rare mutations from background noise. Canopy is launching the service with a panel of genetic variants linked to myeloid diseases, aiming to offer users a tool to study to study disease development, progression, and recurrence. The firm said that the panel targets 54 genes that are often mutated in myeloid malignancies.

Apr 01, 2019

GenScript Single-Stranded DNA Service

GenScript has launched a new single-stranded DNA (ssDNA) service. The firm's service will provide researchers access to its ssDNA for CRISPR-based gene insertion, which it believes will speed up development of gene therapy, cell therapy, and transgenic animal moels for cancer research and treatment. GenScript said that it uses a enzymatic approach to develop high purity DNA oligos up to 3000 nucleotides long in larger quantities, with an undetectable level of DNA contamination and minimal DNA base damage. 

Apr 01, 2019

Congenica Sapienta On-Premise Option

Congenica has introduced an on-premises installation option for its flagship Sapientia genome analysis platform. It had previously been available as cloud product only. UK-based Congenica began developing the on-premises version as part of a partnership with Hong Kong's Digital China Health. The company has said that Chinese institutions have been reluctant to send patient data to the cloud.

Mar 29, 2019

RareCyte CyteFinder II and CyteFinder II HT

RareCyte is introducing its CyteFinder II and CyteFinder II HT instruments, next-generation versions of the company's CyteFinder instruments for multi-omic liquid biopsy and tissue research in clinical labs. Both instruments perform rapid, whole-slide imaging in seven fluorescence channels as well as brightfield for immunofluorescence, immunohistochemistry, and H&E.

CyteFinder II offers researchers a complete workflow in a single platform for imaging through cell retrieval of both liquid biopsy and tissue samples. The integrated CytePicker Retrieval Module enables discovery research by providing image-guided cell retrieval for high-depth sequencing. This workflow can be used for circulating tumor cell mutational analysis, RNA-based T-cell receptor discovery, and differential expression analysis of tissue microenvironments.

CyteFinder II HT meets the demand of high-volume pathology and liquid biopsy labs with hands-free, rapid, whole-slide scanning of up to 80 slides and a barcode-driven workflow for sample tracking. The machine learning-driven workflow for rare cell detection and automated tissue finding make CyteFinder II HT ideal for clinical researchers performing either cellular or tissue-based multiplexed analysis.

Mar 29, 2019

Fluidigm Maxpar Direct Immune Profiling System

Fluidigm has launched the Maxpar Direct Immune Profiling System, which enables researchers to quantify 37 different immune cell populations from human peripheral blood mononuclear cells and whole blood using a simple automated single-tube workflow in five minutes. The new system provides a more comprehensive immune cell profile from both PBMC and whole blood and a user workflow that is significantly improved from the company's Maxpar Human Immune Monitoring Panel Kit. The system contains a 30-marker antibody panel that was developed with input from expert immunologists from academia and biopharma to identify and count 37 different immune cell subsets. Provided in a dry format in ready-to-use assay tubes, it enables researchers to easily stain samples and acquire results using the Fluidigm Helios mass cytometry system, the company said. Researchers can also add up to seven new antibodies to the panel to support specific study goals. Automated single-cell selection and results reporting is completed in just five minutes using the Maxpar Pathsetter software, developed with Verity Software House, Fluidigm said.

Mar 29, 2019

Qiagen ExoRNeasy Midi and Maxi Kits; NGS Panel/Bioinformatics Bundles

Qiagen is launching its exoRNeasy Midi and Maxi Kits for isolation of exosomes and other extracellular vesicles from urine and other samples, as well as the miRNeasy 96 Advanced QiaCube HT Kit for automated purification of total RNA, including miRNA, from serum and plasma samples.

The exoRNeasy Midi and Maxi Kits use membrane affinity technology for RNA isolation from exosomes and other extracellular vesicles, and can provide results in about an hour, the company said. The Midi column enables processing of smaller sample volumes (1 ml serum/plasma and 4 ml or less of urine), while the Maxi format allows the use of large sample volumes (up to 4 ml serum/plasma, 16 ml of urine, and 32 ml of cell culture supernatant).

The miRNeasy 96 Advanced QiaCube HT Kit is designed for automated high-throughput purification of cell-free total RNA, primarily miRNA and other small RNA, from small volumes of serum and plasma on the QiaCube HT instrument. The phenol-free protocol uses easy-to-automate spin column technology in a 96-well format and minimizes hands-on time to remove contaminants and inhibitors, the company noted.

The company also said it is launching new bundles of its bioinformatics solutions with preconfigured QiaSeq DNA panels and custom panels for use on any sequencing platform, as well as with QiaAct targeted gene and custom panels for use on the Qiagen GeneReader NGS System. The new assay-and-software bundles include Qiagen's CLC Genomics Workbench and Clinical Insight-Interpret (QCI-I) for QiaSeq DNA panels and QCI-I for QiaAct panels.

Mar 28, 2019

BC Platforms BC Insight

BC Platforms has incorporated an ontology browser and data visualization dashboard to its BC Insight data management platform. The new dashboard provides users with a visual and contextual overview of massive datasets, customizable to researcher needs. The features will further complement BC Platforms' tertiary analytics tools, enabling scalable phenotypic and genetic data exploration for streamlined patient cohort identification and data organization, the company said.

Mar 27, 2019

HTG EdgeSeq Mouse mRNA Tumor Response Panel

HTG Molecular Diagnostics has released its HTG EdgeSeq Mouse mRNA Tumor Response Panel. According to the firm, the panel is designed for mouse oncology models to identify and quantify gene and gene pathway expression. HTG said it designed the panel to measure over 1,600 mouse mRNA targets in one RNA extraction-free assay. 

Mar 22, 2019

Akoya Biosciences Codex System, Phenoptics 2.0

Akoya Biosciences has commercially released Codex, its tissue analysis and biomarker discovery system, and Phenoptics 2.0, its next-generation biomarker multiplexing platform. According to the firm, the new platforms provide scientists with a detailed solution for multiplexing immunofluorescence from discovery through clinical and translational research.

The Codex system includes a fluidics-based instrument, reagents, and a software analysis suite. Users can simultaneously analyze more than 40 protien markers for spatially resolved tissue characterization with single-cell resolution. The firm said that the system allows customers to design custom panels using a combination of Akoya-validated, ready-to-use antibodies and customer antibodies of interest.

According to Akoya, Phenoptics 2.0 uses the Vetra Polaris imaging system, Opal detection reagents, and inForm analysis software. With the release, the firm is introducing its Motif technology, which simultaneously collects multispectral images on whole-slide tissue sections of up to seven colors. Phenoptics 2.0 also includes multispectral analysis of up to nine colors in regions of interest for deeper interrogation of tissue samples.

Mar 21, 2019

Roche Diagnostics Navify Mutation Profiler, Navify Therapy Matcher

Roche Diagnostics has launched Navify Mutational Profiler and Navify Therapy Matcher to support next-gen sequencing-based cancer genomic profiling tests. Both are part of Roche's Navify Decision Support portfolio.

Navify Mutational Profiler is a clinical software that provides annotation, interpretation, and clinical reporting of NGS tests. Navify Therapy Matcher is an optional clinical decision support app that helps clinicians link clinically actionable mutations to therapy options.

Mar 21, 2019

SeqOnce Biosciences RhinoSeq Rapid DNA Library Preparation Kit

SeqOnce Biosciences has launched its RhinoSeq DNA Library Preparation Kit for next-generation sequencing sample preparation. The firm said that the five tube kit contains preformatted master mixes for a simple, fast, and stable workflow. The tool generates a temporary structure that creates sequence-specific single stranded overhangs for sequencing adaptor litigation. When combined with fragmentation and PCR steps, the kit's 12 minute library construction uses a single master-mix that produces libraries in less than 45 minutes. SeqOnce said that the kit produces best results using a DNA input between 5 to 100ng.

Mar 19, 2019

Asuragen AmplideX PCR/CESMN1/2 Kit

Asuragen has launched the AmplideX PCR/CE SMN1/2 kit. Building upon the testing workflow of the AmplideX PCR/CE SMN1 Kit, the new assay quantifies both SMN1 and SMN2 exon 7 copy number in less than four hours from a single PCR reaction. The firm said that the assay shares a common testing workflow with all other assays in the AmplideX portfolio and is similarly optimized for broadly installed Thermo Fisher Scientific Applied Biosystems Genetic Analyzers.

Interest in SMN1 and SMN2 copy number quantification has grown following the 2016 FDA approval of nusinersen (Biogen Idec's Spinraza) for the treatment of spinal muscular atrophy, a disease attributable to loss of functional copies of the SMN1 gene, and the severity of which is inversely correlated with the number of copies of SMN2, Asuragen noted.

Mar 19, 2019

Strata Oncology StrataNGS

Strata Oncology has launched version 3.0 of StrataNGS, its pan-cancer assay for solid tumors. The updated 500-gene assay sequences DNA and RNA from tumor samples to detect all clinically actionable biomarkers — including microsatellite instability, tumor mutational burden, and PD-L1 — recommended by leading guidelines, in a single test. Test results are provided in a streamlined report that facilitates interpretation and identification of potential treatment options and clinical trials, Strata said.

Mar 19, 2019

Mission Bio Tapestri Designer

Mission Bio has launched Tapestri Designer, a cloud-based tool for customers to design and order single-cell DNA panels. The tool makes use of artificial intelligence and machine learning to enable customers to order customized gene panels, reducing turnaround time for panel design to minutes from weeks, according to the company. Tapestri Designer allows researchers to complete custom designs in three steps: set up an account; upload a CSV file or enter a gene, ID, or coordinate targets; and submit a design to receive results.

Mar 18, 2019

Karolinska University Hospital Genetic Analysis Services

The Mutation Analysis Facility (MAF) at Karolinska University Hospital is launching a range of genetic analysis services targeting the European research and clinical market and focusing on areas such as cancer profiling for solid tumors and liquid biopsy, as well as pharmacogenetics. MAF has ISO/IEC 17025 accreditation for core methods by the Swedish SWEDAC authority, and will offer a broad portfolio of services including genome-wide analysis, targeted epigenetic analysis, and DNA methylation for precision medicine research and clinical decision making. Karolinska highlighted in particular its SNP genotyping expertise, noting that it uses MALDI-TOF analysis performed on Agena Bioscience's MassArray platform to simultaneously genotype several SNPs for both small- and large-scale applications.

Mar 14, 2019

Shield Diagnostics Target-NG

Shield Diagnostics, a CLIA-certified clinical laboratory based in San Jose, California, has launched Target-NG, a rapid molecular test for antibiotic susceptibility in Neisseria gonorrhoeae. The test, which users can run on urine, rectal, and pharyngeal samples, can determine if a given gonorrhea infection is susceptible to ciprofloxacin with the same turnaround time as standard gonorrhea screening tests, the company said.

Mar 12, 2019

Diagenode Megaruptor 3

Diagenode has launched Megaruptor 3, a new version of its DNA shearing instrument. The Megaruptor pumps DNA in solution through an array of uniform pores several times, stretching and breaking the DNA strands in the process. The device is designed to shear DNA into 5 kb to 100 kb fragments and can handle between one and eight samples per run.

Mar 12, 2019

Integrated DNA Technologies and Aldevron's GMP SpyFi Cas9 Nuclease

Aldevron and Integrated DNA Technologies have released GMP SpyFi Cas9 Nuclease for clinical and commercial applications. SpyFi Cas9 Nuclease, which is the trade name for Aldevron's research grade and GMP products, was developed through a partnership between the two companies. The advantages of SpyFi Cas9 Nuclease include reduced off-target effects combined with clinically relevant on-target activity, Aldevron said. Its release provides researchers and scientists with a consistent product for gene editing programs, from discovery through clinical and commercial manufacturing. 

This specific Cas9 protein variant resulted from a substantial amount of development of the wild-type Streptococcus pyogenes Cas9 sequence. This nuclease also functions well in ribonucleoprotein (RNP) delivery format and is compatible with ex vivo gene editing protocols. GMP-grade SpyFi Cas9 Nuclease is available in 1 mg and 10 mg vials.

Mar 12, 2019

Oxford Nanopore Technologies Flongle

Oxford Nanopore Technologies has launched Flongle ("flow cell dongle"), an adapter for the MinIon and GridIon X5 sequencing platforms that takes single-use flow cells. Each $90 Flongle flow cell contains 126 channels and currently produces up to 1.8 Gb of sequence data, an output that is expected to increase to more than 3 Gb in the future. The firm said it has designed the device for small-genome sequencing, panel sequencing, metagenomic sequencing to identify microbes or characterize microbiomes, and library quality control for larger nanopore sequencing experiments.

Mar 11, 2019

DNAnexus Clinico-Genomic Cohort Browser

DNAnexus has added a cohort browser to its DNAnexus Apollo platform for clinico-genomic data science exploration, analysis, and discovery. This represents the commercial launch of a browser that the Regeneron Genetics Center used to analyze a new set of 50,000 exomes and related phenotypes for the UK Biobank study.

Pages

Holden Thorp is to be the new editor-in-chief of Science and its related journals.

A genetic analysis of salmon scales collected over the course of a century points to a sharp decline in the number of fish returning each year to river in British Columbia, CBC reports.

Adelaide University has suspended the head of an ancient DNA lab as its investigation of workplace bullying continues, Australia's ABC News reports.

In PNAS this week: gene expression profiles of adipocyte subtypes, computational approach for improving plant expressome analysis, and more.