Genetics, Genomics & Molecular Diagnostics News

The legal battle began last fall when LabCorp subsidiary Esoterix and Johns Hopkins University sued Myriad alleging infringement of four patents. 

PacBio alleged in its suit that Oxford Nanopore is infringing on a patent it holds related to single-molecule nanopore sequencing.  

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.

Epidemiological clues and genotyping data from tens of thousands of individuals with or without Alzheimer's led to an age-specific polygenic risk score.

The draft bill, based on a proposal developed by a coalition of Dx manufacturers and labs, would split oversight responsibilities across the FDA, CMS, and states. 

The firms will have exclusive access for a limited time to the data from the first 50,000 individuals with samples in the biobank to be sequenced.

Startup companies are taking on personalized medicine, CNET reports.

Bruce Booth writes at Life Sci VC that biotech clusters like Boston and San Francisco are getting even more consolidated.

The Verge speaks with Mark and Scott Kelly, who are the subjects of NASA's Twin Study.

In Genome Biology this week: genes linked to Hirschsprung disease, structural variant patterns in autism, 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.