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Genomenon Mastermind Genomic Search Engine

Sep 19, 2018

The latest release of Genomenon's Mastermind Genomic Search Engine indexes approximately 500,000 new genomic variants from supplemental data found in scientific publications. Most precision medicine tools have not been able to provide insight into supplemental data without manual curation due to the lack of a common file format, the company noted. Supplemental data is often published as an Excel, PDF, .csv, Word, text, or image file. Genomenon said that it overcame this challenge by engineering its indexing pipeline to ingest these different file formats and applying its proprietary Genomic Language Processing technology to index the content for easy retrieval by researchers. 

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Mar 22, 2019

Akoya Biosciences Codex System, Phenoptics 2.0

Akoya Biosciences has commercially released its Codex tissue analysis and biomarker discovery system and Phenoptics next-generation sequencing 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.

Mar 11, 2019

23andMe Type 2 Diabetes Report

Consumer genetics company 23andMe on Sunday launched a Type 2 Diabetes Report that tells customers if they are at risk of developing the disease and the lifestyle changes that could make a positive difference. "The report can help customers learn how their genetics, along with other factors such as their weight, age and lifestyle, may influence the likelihood of developing type 2 diabetes, as well as actions they can take to lower that likelihood," 23andMe said in a blog post.

Unlike the company's other genetic health risk tests, which tell customers if they have specific disease-linked SNPs, the type 2 diabetes test employs a polygenic risk score (PRS) that combines more than 1,000 SNPs in an algorithm. This latest test has not been approved or cleared by the US Food and Drug Administration in contrast to the firm's earlier genetic health risk tests.

23andMe said it developed and validated the PRS using the real-world data of 2.5 million customers who have opted to donate their genetic and phenotypic information to research. In a white paper, the company notes that the type 2 diabetes PRS was developed on variants from genome-wide association studies involving people of European ancestry, and that it trained the score on Europeans and recalibrated for other populations. The data show that the score works best in those of European ancestry and doesn't work as well in African American populations.

Mar 07, 2019

LGC, Biosearch Technologies RapiDxFire Thermostable RT

LGC, Biosearch Technologies has launched RapidDxFire Thermostable RT, a thermostable reverse transcriptase designed specifically for diagnostic kit developers. The enzyme's optimum temperature of 55° C to 80° C improves reaction specificity and allows synthesis from diverse RNA templates. It also has a reaction time of five minutes or less, and is recommended for targets under 1 kb. Its extended stability at room temperature make it compatible with automation, and the enzyme is available in a lyophilization-ready Triton X-100-free format, the company said.

Mar 07, 2019

BioIVT Xpressway Profile Safety Package

BioIVT has launched the Xpressway Profile Safety Package, a compendium of 46 expression profiles for genes known to play pivotal roles in drug safety assessments. These genes are included in the initial screening panel used by pharmaceutical companies to evaluate new chemical entities for potential off-target interactions and toxic effects. Once these entities have been screened against the 46 target genes, the Xpressway Profile Safety Package allows the resulting binding data to be compared with the corresponding human target expression profiles and interpreted further to assess potential safety risk, the company said. When NCEs bind to the targets, the tissue distribution of those targets can inform decision making about the compounds and chemical series. BioIVT said that it employed a rigorous, highly controlled qRT-PCR method to develop the Xpressway Profile Safety Package's gene expression data.

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Sponsored by
Qiagen

The Human Gene Mutation Database (HGMD) is a manually curated, comprehensive collection of disease-causing, germline mutations. Since 1996, a team of experts has manually catalogued over a quarter of a million mutations for the database.  

Apr
09
Sponsored by
Sophia Genetics

This webinar will present the utility of a personalized in silico analytical approach for the routine clinical diagnosis of channelopathies and cardiomyopathies. 

May
07
Sponsored by
Agilent

This webinar will discuss the implementation of an enterprise-wide clinical genomics platform that is shared across 10 hospitals and research organizations in the Australian State of Victoria.