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Foundation Medicine Gains FDA Approval, CMS Coverage Proposal for NGS Cancer Profiling Test
The FDA approved FoundationOne CDx and the Centers for Medicare and Medicaid Services concurrently issued a proposed national coverage decision for the test.
Genetic Architecture of Human Skin Pigmentation More Complex Than Previously Thought
Researchers studying pigmentation in KhoeSan individuals found that more genes are involved in determining skin tone than previous studies had determined.
The researchers said that metagenomic sequencing approaches could be used to study whether and how flies serve as mechanical disease vectors.
The creator of the Genome Aggregation Database sees an ever-expanding GnomAD database as a centerpiece to improving the diagnosis of rare diseases.
Varmus Urges Payors to Use Coverage With Evidence Development to Advance Cancer Genomics
Payors' demands for clinical utility evidence can be met through greater use of databases and registries, Harold Varmus and Rebecca Eisenberg said.
Human SARS Virus Found Piecemeal in Different Bat Coronaviruses From One Cave
Researchers sequenced bat viruses collected over five years from a cave in China to find they separately harbor gene variants found among human SARS viruses.
Head and Neck Cancer Characteristics, Subtypes Refined With Single-Cell Transcriptomes
Using RNA sequences for thousands of cells, researchers looked at head and neck squamous cell carcinomas and proposed streamlined expression subtypes.
Personalis Wins VA Contract for Cancer Genomic Testing
The contract was awarded as part of the VA's Precision Oncology Program, which aims to provide advanced clinical care and generate cancer biomarker data.
Awards for Negative Results, Replications
Nature says that prizes for studies with negative results or replication studies may signal a new appreciation for such work.
The Few
Wired writes that despite the high interest in immunotherapies and CAR-T cell therapies, they will only help a small portion of cancer patients.
This Week in Nature: Nov 30, 2017
In Nature this week: genomic analysis of malaria-carrying mosquitos reveals genetic diversity, and more.
Got the Skills
PhD training imparts professional skills that are important in a range of careers, Science Careers reports.
Horizon Discovery 5-Fusion Multiplex FFPE RNA Reference Standard
The 5-Fusion Multiplex FFPE RNA Reference Standard from Horizon Discovery is a highly characterized, biologically relevant quality control material used to assess the performance of targeted NGS, RT-PCR, and RT-qPCR assays for gene fusions. Each FFPE curl is composed of a formalin-fixed, paraffin-embedded cell line verified to contain EML4-ALK, CCDC6-RET, SLC34A2-ROS1, TPM3-NTRK1, and ETV6-NTRK3 fusions. Using the reference standard it is possible to evaluate workflow integrity from pre-analytical RNA extraction to fusion detection. Extractable RNA is at least 100 ng, the company noted.
Avacta Anti di-Ubiquitin K6 and K33 Affimers
Avacta has released Anti di-Ubiquitin K6 and K33 Affimers. Affimer binders are produced entirely in vitro and are therefore not restricted by the host immune system. The technology is suited for difficult targets such as K6 and K33, the exact function of which is largely unknown due to the limited tools available. The Anti di-Ubiquitin Affimer range is human-specific and includes a variety of tagged binders displaying high affinities for poly-ubiquitin chains formed by K6 or K33 linkages, in protein expression studies.
Edico Dragen Complete Suite
Edico Genome has introduced Dragen Complete Suite on AWS Marketplace, providing Amazon Web Services users with one-click access to all Dragen next-generation sequencing data analysis applications. The Dragen CS package includes version 2 of both the germline and somatic pipelines. Dragen CS contains tools for all pipeline steps, including mapping/aligning, position sorting, duplicate marking, and variant calling. The application accepts sequencing data inputs in BCL, FASTQ, and BAM/CRAM formats, and features BCL conversion, download and upload streaming, and compressed hash tables for a more streamlined and efficient workflow.
Vela Diagnostics Receives CE-IVD Mark for Cell-Free DNA Kit
The company said that it is working on cfDNA claim extensions for various PCR and NGS assays in its portfolio, which would be compatible with the new extraction system.
Orig3n's Purchase of Interleukin's CLIA Lab May Appease CMS, But Some Question Plans for Test Assets
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A number of experts have questioned the clinical validity underlying Interleukin's tests and hope Orig3n will not revive them.
LGC to Distribute NuGen Target Enrichment Technology
LGC will offer NuGen's single-primer enrichment technology for next-generation sequencing target enrichment.
Rosetta Genomics Receives Nasdaq Non-Compliance Letter
Last month, the company was notified that it no longer met the Nasdaq's stockholder equity listing requirement and faced delisting.
Spartan Bioscience Branches Into Environmental Testing With Point-of-Use Molecular Legionella Assay
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The firm will market its test directly to large property management firms in the US, Canada, and worldwide.
Epic Sciences Metastatic Breast Cancer Circulating Tumor Cell Panel
Epic Sciences has released a new single-cell profiling panel for metastatic breast cancer, which alllows analysis of a wide variety of targets, including tumor cell burden, clinically relevant hormone receptor status, and genomic drivers. The panel also enables evaluation of individual CTCs for phenotypic heterogenaity and for novel morphologic signatures that can indicate things like homologous recombination deficiency.
Mosquito Genomes Reveal High Diversity, Movement of Insecticide Resistance Genes
Researchers from the Anopheles gambiae 1000 Genomes Project uncovered high levels of genetic diversity in two mosquito species in Africa.
Genetic Study Supports Potential Lipid Role in Aortic Cardiovascular Condition
Using genetic risk scores, researchers uncovered apparent associations between abdominal aortic aneurysm and cholesterol or triglyceride levels.
PreventionGenetics to Integrate FDNA's Face2Gene Into DNA Testing Services
PreventionGenetics will use FDNA's technology to expand the diagnostic ability of its testing and interpretation services.
UPDATE: NIH, National Library of Medicine Partner on Precision Medicine Initiative Outreach
The National Network of Libraries of Medicine will support community engagement efforts by public libraries across the US and help improve participant access.