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Apr 18, 2019

Altos, Wasai Accelerated Genome Sequencing Solution

Acer subsidiary Altos Computing and WASAI Technology have globally launched an accelerated sequencing genome solution that will focus on human genome sequencing. The group said the development will integrate Altos' BrainSphere AI computing platform with WASAI's software to create a tool that is faster for genome sequencing without sacrificing accuracy. The joint solution will allow researchers to complete germline analyiss within eight hours. According to the firms, the tool will also help facilities accelerate native algorithms for resutls that are as precise and consistent as the original software. 

Apr 15, 2019

Thermo Fisher Scientific Applied Biosystems QuantStudio 6 and 7 Pro Real-Time PCR Systems

Thermo Fisher Scientific has launched the Applied Biosystems QuantStudio 6 and 7 Pro Real-Time PCR systems. They include smart features such as facial authentication, voice commands, radio-frequency identification (RFID)-enabled plate scanning, and single-touch access to service and support.

Apr 12, 2019

Ares Genetics AresUPA NGS Service

Curetis subsidiary Ares Genetics announced today that it will launch a next-generation sequencing service in mid-2019 using its AresUPA Universal Pathogenome Assay, which can be used to sequence bacterial strains isolated from clinical specimens. According to the firm, AresUPA identifies the bacterial strain and detects antimicrobial resistance based on the genetic profile in the clinical isolate. The assay integrates NGS with data analysis and interpretation powered by ARESdb, the firm's AI-powered reference database on antimicrobial resistance genetics. Ares will offer the assay out of its NGS service laboratory currently being set up in Vienna, Austria. 

Apr 12, 2019

Centogene CentoMetabolic Panel

Centogene has launched its CentoMetabolic panel, a first-line test for a range of rare genetic metabolic diseases. According to Centogene, the panel combines genetic and biochemical testing, allowing immediate confirmation of and better understanding of a disease's course, enhanced treatment monitoring, and tailored treatment guidance. The panel includes as many as 166 genes and was developed for patients suspected to have a metabolic disorder or presenting complex, overlapping symptoms, a metabolic crisis, or neurological conditions of unknown etiology. The firm said that the panel provides short turnaround times, targets critically ill patients, includes enzyme-activity testing and a continually updating set of biomarkers. 

Apr 11, 2019

PetaSuite Protect

PetaGene has introduced PetaSuite Protect, an encryption and access-management system for genomic data. The new product system features Advanced Encryption Standard 256-bit (AES-256) encryption and is compliant with the Federal Information Processing Standard (FIPS) Publication 140-2, a security standard used by the US government. PetaSuite Protect also offers data managers the ability to grant access to specific regions of genomic data files, rather than opening up whole files to all users.

Apr 11, 2019

Enpicom ImmunoGenomiX

Enpicom has introduced ImmunoGenomiX, an immune sequencing data analysis platform. Known as IGX, the platform will help researchers manage, store, analyze, visualize, and interpret immune repertoire sequencing data from T-cell and B-cell receptors. The Netherlands-based company unveiled IGX at the Sixth Immunotherapy of Cancer Conference in Vienna, Austria. 

Apr 09, 2019

Quantabio Qscript lyo 1-step

Quantabio has launched its Qscript lyo 1-step, a lyophilized single-reaction reagent for highly sensitive and reproducible RT-qPCR RNA applications. The firm said that the freeze-dried master mix can be shipped and stored at ambient temperature, which removes the need for cold chain, cuts the carbon footprint, reduces overall costs. Users can store the master mix up to nine months at ambient temperature, or two years at 4 degrees Celsius from the manufacture date. According to the firm, Qscript allows researchers to routinely detect down to 0.5 picograms of RNA. The kit contains a hot-start thermostable polymerase, a genetically engineered reverse transcriptase, as well as other components that the firm said will ensure higher performance detection while multiplexing up to five targets with maximum sensitivity and specificity. The reagent offers high-performance across a range of inputs from 0.5-500 picograms. 

Apr 05, 2019

Fabric Genomics Hereditary Panels With ACE

Fabric Genomics has launched Fabric Hereditary Panels with ACE (AI Classification Engine) software for variant interpretation and clinical reporting. ACE is an artificial intelligence inference engine that leverages deep gene and variant annotation, resulting in highly accurate American College of Medical Genetics variant classification. The software is embedded within the Fabric Enterprise platform for genomic analysis and reporting that delivers a complete sequence-to-clinical report workflow. ACE enhances the Fabric Enterprise platform, making ACMG classification even faster and easier, the company said. The new software is now available for many common genetic tests such as inherited cancer risk including BRCA1 and BRCA2, newborn screening, and CDC-Tier 1 and ACMG incidental findings testing.

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.

Pages

Bloomberg reports that the DNA-for-cash deal reported in Kentucky might be a more widespread scam.

St. Jude Children's Research Hospital scientists have treated infants with X-linked severe combined immunodeficiency using gene therapy in an early phase study.

St. Louis Public Radio reports that some African Americans are turning to DNA ancestry testing to help guide genealogical searches.

In Nature this week: a genomic analysis of the snailfish Pseudoliparis swirei, ancient DNA analysis gives insight into the introduction of farming to England, and more.