Genetics, Genomics & Molecular Diagnostics News

At the American College of Medical Genetics and Genomics annual meeting in Phoenix, WuXi presented results from a pilot study involving 190 individuals.

ACLA said the goal of the delay is to redefine "applicable laboratories" and give labs and CMS more time to collect data that will inform market-based pricing.

Using a mass spec-based proteogenomic approach, the researchers identified commonalities in neoantigen presentation across mantle cell lymphoma patients.

The groups said they hope their recommendations lead to higher-quality sequencing results in the lab and better care for cancer patients in the clinic.

Harold Varmus, a former NIH director, says that proposed reductions to the agency's budget are worrisome.

The Genome 10K project is to sequence about 10,000 vertebrate genomes, including ones of endangered species, Digital Trends reports.

The new Coalition to Save NIH Funding aims to educate lawmakers and the public on the significance of biomedical research.

In PLOS this week: analysis of viral sequences from human blood samples, gut microbiomes of heart failure patients, and more.

This application reports a method to monitor the common systemic response to cancer. We spectrally quantified over 200 serum proteins, and most notably enriched for sub-populations of the protease inhibitor Alpha-1-Antitrypsin, which would not have been observable without the method. From this data, we solicit that protein markers from categorical panels can distinguish a cancer serum phenotype at very early stages, possibly even before presentation of any clinical evidence.

This paper introduces development work being undertaken at Cambridge to create a new state of the art “-omics” analysis hardware and software platform that employs the open source software framework OpenCB. Such advancements in analytics platforms are vital to translate advances in population-scale -omics into personalized medicine technologies.

This white paper shares insights and best practices to design, implement and optimize on premise public, private, and hybrid cloud architectures. Such architectures mix file and object approaches to achieve an optimal balance between cost, performance, data governance, and protection requirements.