More articles about Tools & Technology

Researchers at ASHG reported on projects studying the potential of implementing on a large scale rapid WGS in NICUs for faster diagnosis of genetic disorders.

The company plans to use the technology, originally developed by Good Start Genetics, to offer sample preparation solutions and data analysis for NGS.

The companies will integrate Fabric's Enterprise NGS data analysis, interpretation, and clinical reporting platform with Genomenon's literature search engine.

Researchers saw frequent somatic mutations in esophageal tissue from nine individuals, including mutations under positive selection in 14 oncogenes.

By profiling the mutation patterns in secondary GBM cases, researchers found recurrent MET alterations and attempted to target it with a MET kinase inhibitor.

The firm said that the assay uses vaginal or rectal swabs to identify Group B Streptococcus DNA in about an hour. It has filed for 510(k) clearance with the US FDA.

The test is designed to detect the presence or absence of the Zika virus in serum or plasma collected alongside urine from patients with suspected infection.

Five months after a name change, the former Lab7 Systems has evolved its technology into an app-based platform to support NGS, translational research, and cell therapy.

Researchers at Memorial Sloan Kettering Cancer Center identified clinically actionable germline mutations in 8.5 percent of about 2,700 unselected lung cancer patients.

Biomatrica's sample collection tubes ensure quality preservation of circulating tumor DNA and cells, promoting high-quality liquid biopsy results, Exact said.

Privately owned Oxford Nanopore offers a range of tools and and instruments based on a proprietary nanopore-based DNA and RNA sequencing technology.

The company presented Color Data as a resource for variant classification scientists and hopes it will inspire industry peers to similarly share data.

Researchers in Nigeria and the US sequenced more than 200 Lassa virus samples to find typical environmental transmission patterns.

The firm said it will use the net proceeds for R&D, including the continued development of its Acuitas AMR gene panels and Acuitas Lighthouse software.

The company's third quarter revenue increase was driven in part by strong growth in its molecular biology clinical applications.

The companies will offer BGI's DNBseq next-generation sequencing technology along with Gencove's ImputeSeq low-pass sequencing analysis pipeline.

The approach could be particularly useful for harmonizing data from large multi-site efforts as proteomics experiments continue to grow in size and complexity.

The genomic analysis also found that drug resistance mutations have appeared locally, suggesting that the issue can still be addressed region by region.

Members of the Beat AML consortium uncovered relationships between somatic mutations, gene expression profiles, and sensitivity to more than 100 drugs.

The group aims to collect and sequence more than 2,500 blood samples by 2020 to improve primary diagnosis and treatment options for patients suffering from Parkinson's disease.

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British Nobel laureates and Fields Medal winners warn that a 'hard' Brexit could harm science across the UK, the Guardian reports.

 

Vox reports on inequities in genetic research and efforts to address them.

The New York Times reports that Arizona State University's Lawrence Krauss is retiring following allegations of sexual misconduct.

In PNAS this week: de novo NUS1 mutations linked to Parkinson's disease risk, candidate hepatocellular carcinoma drivers, and more.