Ambry Genetics ProstateNext Panel | GenomeWeb

Ambry Genetics ProstateNext Panel

Sep 28, 2016

Ambry Genetics has launched its ProstateNext 14-gene panel for hereditary prostate cancer. The panel evaluates germline ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51D, and TP53 genes using next-generation sequencing and deletion/duplication analysis to determine disease risk and/or treatment options.

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Mar 23, 2017

Optra IPhronesis Knowledge Automation for Clinical Genomics Platform

Optra Health has launched iPhronesis Knowledge Automation for Clinical Genomics. The platform uses advanced natural language processing algorithms and deep machine learning in addition to the iPhronesis Cognitive Workbench to automate literature and data review. It includes data connectors to public databases, such ClinVar, and repositories, such as PubMed and OMIM. It includes an intuitive user interface and simple workflow so consumers can adopt the software quickly and efficiently, the company said.

Mar 23, 2017

Invitae Genetic Health Screen

Invitae has launched its Genetic Health Screen tests, an expansion of its offerings as part of the company's ongoing proactive genetic testing pilot program. The expansion includes additional genes linked to cancer, cardiovascular conditions and other genetic disorders and provides information on 139 medically actionable genes. The company also offers sub-panels focused only on cardiovascular conditions or cancer.  The tests are intended for patients who do not meet diagnostic criteria for genetic testing, but who wish to use genetic information to help guide their health decisions, the company said. They can only be ordered by a physician.

Mar 23, 2017

Synthego CRISPRevolution Chemically Modified Synthetic sgRNAs

Synthego has announced new chemically modified synthetic single guide RNAs for CRISPR genome editing. The modified guides provide protection against intracellular immune responses in primary and stem cells and against exonuclease attack in both eukaryotic and prokaryotic cells. The sgRNAs are synthesized with 2'-O-methyl analogs and 3' phosphorothioate internucleotide linkages in the first three nucleotides at both the 5' and 3' end of the RNA molecule.

Mar 22, 2017

Genome Workbench 2.11.10

The National Center for Biotechnology Information has released Genome Workbench 2.11.10. This version of the platform includes critical improvement in HTTPs protocol communication with NCBI, improvements to the Graphical Sequence View, new manual for search in bio-trees, and numerous bug fixes and improvements.

Mar 22, 2017

Variantyx Genomic Intelligence Platform

Variantyx has launched its Genomic Intelligence platform. The platform automates the complete NGS testing process from sample collection to sequencing, data analysis, interpretation and clinical report generation. It utilizes public and the company's in-house resources to detect and report clinically actionable variants to consumers. The company is also offering to use the platform to review previously undiagnosed cases to provide a second opinion to clinicians at no cost, it said.

Mar 22, 2017

FDNA Face2Gene Research Application

FDNA has launched Face2Gene Research, an application that uses facial analysis, deep learning, and artificial intelligence to analyze patient cohorts to make clinical genomic discoveries. The application allows clinicians to de-identify medical data from their patients to discover syndrome phenotypes; compare phenotypes, genes, and gestalts among multiple cohorts; compare syndrome or gene cohorts to a normal population; expand data collection; and offer collaboration opportunities.

Mar 22, 2017

EntroGen Colorectal Cancer Panel, Thyroid Cancer Mutation and Fusion Gene Detection Kits

EntroGen has launched its Colorectal Cancer panel, Thyroid Cancer Mutation Analysis kit, and Thyroid Cancer Fusion Gene Detection kit. The panel is a PCR-based, highly multiplexed assay that allows consumers to screen or 50 somatic mutations in oncogenes associated with colorectal cancer tumors (KRAS, NRAS, BRAF, PIK3CA, and AKT). It is compatible with formalin fixed paraffin embedded and fresh frozen tissue. The Thyroid Cancer Mutation Analysis kit and Thyroid Cancer Fusion Gene Detection kit are multiplexed PCR-based assays that prevent unnecessary surgeries due to indeterminate cytology specimens, the company said. The mutation analysis kit detects point mutations in BRAF, KRAS, NRAS, and HRAS is isolated DNA. The fusion gene detection kit detects the chromosomal translocation RET/PTC1, and PAX8/PPARy in RNA. These kits are compatible with FFPE, fine needle aspiration, and fresh frozen samples. All three products have received the CE-IVD mark.

Mar 22, 2017

Invitae Spinal Muscular Atrophy Test

Invitae launched a new genetic test for diagnosing spinal muscular atrophy (SMA), a neuromuscular disease that impacts infants' ability to walk, crawl, and eventually breath and swallow, and can be lethal. The company claims that its genetic test is an improvement over currently available methods. Affecting one in every 10,000 infants, SMA is an autosomal recessive disorder that is usually caused by the loss of SMN1 gene, while variations in the number of copies of SMN2 contributes to disease severity. Accurately gauging both sequence changes in SMN1 and copy number changes in SMN2 has been challenging in the past, but the company said in a statement it is hoping to address this with its next-generation sequencing test and customized bioinformatics solution. Invitae is offering analysis of SMN1 and SMN2 as a standalone test, and adding the genes to its neuromuscular and neuropathy panels.

Mar 21, 2017

Agilent SureSelect Clinical Research Exome V2

Agilent Technologies has introduced a new target enrichment technology for next-generation sequencing. The SureSelect Clinical Research Exome V2 adds coverage for 1,099 additional disease-relevant targets, 75,000 splice sites of noncoding exons, more than 12,000 deep intronic variants, and more than 800 variants in promoter regions. The targets were curated in collaboration with Emory University and the Children's Hospital of Philadelphia.

Mar 17, 2017

Roche MagNA Pure 24

Roche has launched the MagNA Pure 24 System for nucleic acid extraction and purification. The fully automated, magnetic bead-based clinical sample extractor features walk-away automation and provides on-board primary sample handling for low to medium throughputs. The system, which is IVD/CE-IVD labeled, also provides extraction from a wide range of human sample types with a single universal reagent kit.

Mar 16, 2017

Phosphorus Genetic Tests for Inherited Cardiology Diseases

Phosphorus has launched genetic tests of inherited conditions associated with early onset cardiovascular disease. The tests include a comprehensive panel of genes based on the latest advances in cardiovascular disease research and are powered by next-generation sequencing technology, including detection of copy number variants, the company said. The panels include genes associated with cardiomyopathies, arrhythmias, and familial hypercholesterolemia.

Mar 15, 2017

Thermo Fisher Scientific QuantStudio 5 Real-Time PCR System

Thermo Fisher Scientific has launched the Applied Biosystems QuantStudio 5 Real-Time PCR system for human identification. The system is designed to deliver efficient performance with a smaller footprint and lower annual maintenance costs, the company said. It has been optimized with the new HID Real-Time PCR Analysis Software v1.3, which allows researcher to perform data analysis with a virtual standard curve feature to minimize variation and reduce costs associated with using standards on every plate. The software also includes quantification and short tandem repeat setup features.

Mar 15, 2017

Omic Analytics Proteolabels

Omic Analytics has launched Proteolabels, a new proteomics-focused plugin for Progenesis QI, the mass spectrometry analysis software from Waters subsidiary Nonlinear Dynamics. Proteolabels supports research involving stable isotope labels, such as stable isotope labeling with amino acids in cell culture (SILAC) and dimethyl labeling in duplex or triplex. The plugin offers features such as co-detection, auto-detection, peptide scoring, intelligent protein inference, and quality control metrics. It will be available exclusively through Waters.

Mar 15, 2017

Eurofins Next Generation DNA Synthesis Service

Eurofins Genomics has launched its DNA synthesis service, which is designed to supply both small and large quantities of high-quality oligonucleotides. The services uses the company's next-generation synthesis platform. For order in the US and Canada, oligos meeting the specified scale, length, and purification criteria and placed as late as 5:00 p.m. are eligible for same-day synthesis and overnight shipping for no additional surcharge, the company said.

Mar 15, 2017

Agena UltraSeek Lung and Colon Panels

Agena Bioscience has launched the UltraSeek Lung and Colon panels for the detection of somatic mutations from lung and colon cancers. The panels enable mutation profiling of circulating tumor DNA and circulating tumor cells from plasma and solid tumor tissue. They also target mutations of known significance in BRAF, EGFR, ERBB2, KRAS, NRAS, and PIK3CA genes. The panels can work with DNA extracted from a single 10 mL blood draw and can detect mutations as low as 0.1 percent minor allele frequency, the company said.

An opinion piece appearing in Newsday likens familial DNA search to stop-and-frisk policies.

The San people of Africa have drawn up a code of conduct for researchers, according to the Conversation.

In Nature this week: genotypes linked to hip osteoarthritis, and more.

Startup companies are taking on personalized medicine, CNET reports.

Mar
28
Sponsored by
Illumina

This webinar describes the optimization and validation of two commercially available next-generation sequencing assays that may be used to guide personalized cancer treatment. 

Mar
30
Sponsored by
SeraCare

Our roundtable of industry experts will provide an overview of the current regulatory landscape for clinical genomics tests.

Apr
13
Sponsored by
SeraCare

In this webinar, Gregory J. Tsongalis of Dartmouth Hitchcock Medical Center will discuss how his lab developed and validated a cancer hotspot assay. 

Apr
18
Sponsored by
Twist BioScience

This webinar will cover methodologies for genome-wide screening with CRISPR/Cas9 in human pluripotent stem cells (hPSCs).