Diploid's InHelix

Jul 15, 2016

Diploid has integrated InHelix, its software for CNV analysis in rare disease diagnostics, with Face2Gene, a software platform for detecting facial dysmorphic features from facial photos. The integration will allow clinicians directly access and use dysmorphic patterns detected by Face2Gene from within InHelix and combine it with CNV analysis. In addition, InHelix users can also import general patient information automatically into the software.

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Dec 07, 2018

Allele Biotech Stem Cells

Allele Biotech has produced its initial batch of six induced pluripotent stem cell (iPSC) lines. The firm's iPSCs were created using its mRNA technologies, with full cGMP monitoring and documentation starting from donor consent, screening, and tissue biopsy.  In addition to iPSC generation and differentiation, customers can use Allele's mRNA platform to engineer human iPSC s in a one-time genetic modification event to create a clonal iPSC line that can be developed into a master cell bank.

Dec 05, 2018

Thermo Fisher Scientific Invitrogen Collibri Stranded RNA Library Prep Kits for Illumina Systems

Thermo Fisher Scientific has launched a new line of Invitrogen next-generation sequencing library preparation kits that are compatible with Illumina sequencing systems. The Invitrogen Collibri Stranded RNA Library Prep Kits for Illumina Systems come in two versions, one for whole transcriptome sequencing that includes ribosomal depletion and one for mRNA sequencing that does not. The kits are currently available outside of the Americas.

Dec 03, 2018

Insight Genetics Insight TNBCtype

Insight Genetics has launched Insight TNBCtype, a new test for categorizing triple negative breast cancers (TNBC) into distinct molecular subtypes. Offered through its CLIA-certified and CAP-accredited lab, Insight Molecular Labs, the new test is intended to help advance prospective clinical trials of targeted therapies for TNBC patients.

TNBC, which represents up to 15-20 percent of all breast cancers, is an aggressive disease, characterized by an absence of ER, PR, and HER2 expression. Insight TNBCtype is based on a proprietary algorithm that uses gene expression data from next-generation sequencing to generate five molecular subtypes (BL1, BL2, LAR, MSL and M), as well as a complementary immunomodulatory (IM) classifier that may help predict response to immuno-oncology therapies. 

 

Nov 30, 2018

Qiagen QiaScreen HPV PCR Test

Qiagen announced the European launch of its QiaScreen HPV PCR test, a CE-IVD marked molecular diagnostic assay for 15 recognized high-risk genotypes of human papillomavirus associated with cervical cancer. The assay is designed to detect a range of DNA targets within the E7 region of the HPV virus, providing the flexibility of PCR without the risk of false positives due to L1 deletion, Qiagen said. The clinical performance of the assay was tested using nearly 1,600 samples from the Valgent-3 panel, and was reported to have a clinical sensitivity and specificity to CIN3+ of 97.3 percent and 89.0 percent, respectively. The assay is designed for use on either clinician-collected or self-collected specimens, and it has been validated on Qiagen's Rotor-Gene Q MDx system. Qiagen also intends to offer a version of the test on the NeuMoDx 96 and 288 molecular systems in the future for customers desiring higher-volume testing and full integration.

Nov 29, 2018

Qiagen CLC Genomics Workbench 12; QCI Interpret Workflow; QiaAct Myeloid Panel

Qiagen has launched the new CLC Genomics Workbench 12 sequencing analysis software, which incorporates features of two previous Qiagen products: the CLC Biomedical Genomics Workbench and CLC Genomics Workbench. The new product features a streamlined and simple interface designed for scientists with any bioinformatics skill level, Qiagen said. The data footprint is reduced by more than half compared to previous products. In addition, an in-depth reference tool suite allows users to quickly start work on many commonly studied species and genomic panels, the company noted. Current users of the CLC Biomedical Genomics Workbench can choose to upgrade to the new product free of charge.

The firm also launched a new workflow for the Qiagen Clinical Insight Interpret web-based clinical decision support platform for hematological malignancies. Qiagen designed the workflow to work with the heterogeneous nature of and provide actionable information for the sub-classification and prognostic assessment of these malignancies, including leukemia, Non-Hodgkin's lymphoma, Hodgkin's lymphoma, and multiple myeloma. QCI Interpret draws upon the Qiagen Knowledge Base to evaluate genomic variants in the context of published biomedical literature, professional association guidelines (AMP/ASCO/CAP and ACMG/AMP), publicly and privately available databases, drug labels, and clinical trials.

Lastly, Qiagen launched the QiaAct Myeloid UMI Panel for the GeneReader NGS system. The panel covers 25 highly relevant genes and their variants, including single nucleotide variants and insertions/deletions of known significance to clonal myeloid malignancy. The gene targets have been thoroughly selected for their occurrence and relevance in myeloid malignancies as stated by international references and organizations, including the 2016 WHO classification categories, National Comprehensive Cancer Network, European LeukemiaNet, MPN&MPNr-EuroNet, and the European Society for Medical Oncology. Among the genes targeted are JAK2, CALR, IDH1/2, FLT3, KIT, SRSF2, and TP53.

Nov 28, 2018

Swift Biosciences Normalase Kit

Swift Biosciences has launched the Normalase Kit, an enzymatic library normalization kit for next-generation sequencing library preparation. According to the company, the kit reduces sequencing read depth variation within a pool down to a coefficient of variation less than 10 percent. The kit is compatible with library prep workflows from Swift, Illumina, and Roche/Kapa.

Nov 27, 2018

SoftGenetics MaSTR Probabilistic Mixture Analysis Software

SoftGenetics has released a new probabalistic mixture analysis software product called MaSTR. Designed according to probabalistic guidelines set by the Organization of Scientific Area Committees for Forensic Science and the Scientific Working Group on DNA Analysis Methods, MaSTR is meant to provide transparency to help forensic professionals better describe DNA findings in courtrooms. State College, Pennsylvania-based SoftGenetics said that it is making the MaSTR analysis code available to users on a confidential basis only.

Nov 26, 2018

OncoDNA OncoDeep

OncoDNA has released an updated version of its OncoDeep solid tumor analysis tool. The firm's OncoDeep assay sequences a total of 313 genes, compared to 75 for the original product. The panel includes more genes involved in immunotherapy selection and homologous recombination deficiency for PARP inhibitors. OncoDNA said that the next-generation sequencing panel has a broader detection of fusions with new probes, as well as a broader MSI coverage to increase the accuracy of the firm's algorithm.

Nov 20, 2018

Thermo Fisher Scientific Invitrogen Silencer Select lncRNA siRNAs

Thermo Fisher Scientific has released Invitrogen Silencer Select lncRNA siRNAs, a library that covers more than 5,000 long non-coding RNA targets. The siRNAs offer up to 90 percent knockdown of lncRNA and can be used to study how lncRNAs regulate cell signaling, tumor progression, and metabolic regulation.

Nov 15, 2018

SoftGenetics GeneMarker Sequence Repeat Expansion Analysis

SoftGenetics has released a new application for its GeneMarker software called Sequence Repeat Expansion Analysis. The app performs repetitive calculations by converting fragment size to repeat length so users no longer have to transfer data from genotyping platforms to spreadsheets, saving time and eliminating the potential for error in making such transfers.

Nov 09, 2018

Arima Genomics Arima-HiC Platform

Arima Genomics has announced the commercial launch of its Arima-HiC sample preparation kit. The tool allows researchers to detect long-range chromatin interactions that can be used across multiple applications. Depending on the application, researchers can generate high-quality Hi-C libraries using less than 100,000 cells across rare samples in six hours, the firm said.

Nov 08, 2018

10x Genomics Single-Cell ATAC; Feature Barcoding; Gene Expression Kits

10x Genomics has launched a number of new products. Its Single Cell ATAC Solution enables researchers to analyze open chromatin regions in single cells for epigenomic studies. The Feature Barcoding technology enables specific biological components, such as cell surface proteins or CRISPR-mediated perturbations, to be analyzed simultaneously with gene expression in the same cell. The technology is compatible with both the single-cell gene expression and immune profiling kits. In addition, the firm has launched version three of its Single Cell Gene Expression Solution, which includes enhancements to reagents, microfluidic chips, software, and visualization tools. That kit will begin shipping in December.

Nov 08, 2018

NanoString CAR-T Characterization Panel

NanoString Technologies has announced the launch of a new gene expression panel for the molecular characterization of CAR-T cells in research, development, and manufacturing of adoptive cell therapies. According to the company, the new nCounter(R) CAR-T Characterization Panel was created in collaboration with eight academic centers and is designed for use across the entirety of the CAR-T workflow including leukapheresis, manufacturing, and post-infusion monitoring.

The customizable 780-gene expression panel incorporates content to measure eight essential components of CAR-T cell biology including T-cell activation, metabolism, exhaustion, and receptor diversity with optional customization for measuring transgene expression with NanoString's Protein Barcoding Service. The firm expects to begin shipping the panel in December.

Nov 08, 2018

Hologic Panther Fusion Open Access Functionality

Hologic has introduced an Open Access functionality that will allow CLIA-certified laboratories to develop laboratory developed tests to run on its fully automated Panther Fusion platform. Labs will be able to run their LDTs simultaneously with commercially available IVD assays, and results will release automatically to laboratory information systems.

The Open Access functionality is enabled by the new myAccess software, which is designed to help laboratories create protocols, analyze data, set thresholds, and interpret results, Hologic said.

Nov 06, 2018

Biocrates Life Sciences MxP Quant 500

Biocrates Life Sciences has released its new MxP Quant 500 system. The method allows researchers to quantitatively measure a large number of different metabolites produced by intestinal bacteria, the firm said. Biocrates believes the method will provide new insights into the interaction between patients and their intestinal flora. Researchers can use the kit to determine metabolite products in blood and stool samples, including several hundreds metabolites produced by the body and substances modified by the microbiome including; choline and its degradation products, branched-chain amino acids, and secondary bile acids. 

The Wall Street Journal reports Human Longevity's valuation has dropped by 80 percent.

The New York Times and ProPublica say that many physicians fail to disclose their financial ties when publishing in medical journals.

Science reports that the US National Cancer Institute is cutting its operating budget by 5 percent.

In PLOS this week: similar variants seen in bullbogs, people with Robinow syndrome; ApoE genotypes in African-American, Puerto Rican populations; and more.