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Researchers identify a genetic defect that increases the risk of debilitating eye disease

Researchers identify a genetic defect that increases the risk of debilitating eye disease A genetic defect could hold the key to preventing or delaying the onset of a debilitating eye disease that can lead to vision loss and blindness. MacTel (macular telangiectasia type 2) affects one in 1,000 Australians. Symptoms include slow loss of vision, distorted vision and trouble reading. Because early signs of the disorder are subtle, it is difficult to diagnose. Researchers have identified an additional seven regions in the human genome that increase the risk of developing the condition, including a rare DNA mutation in the PHGDH gene, which will help clinicians to better diagnose and treat it.

WANdisco grants industry leading LiveData Platform to fast-track high-volume genome analysis and Covid-19 research in South Korea

(0) SAN RAMON, Calif., March 17, 2021 /PRNewswire/ WANdisco, the LiveData company, announced today that it donated its LiveData Platform to help Korea Research Institute of Bioscience & Biotechnology conduct faster analysis in its efforts towards Covid-19 research. Using the automated data migration and replication platform, the institute has been able to replicate files between Hadoop-based big data clusters and Linux-based analysis clusters 13 times faster than before, and reduce analysis time by over 30 percent. In early 2020, WANdisco announced free access to their suite of cloud migration and big data tools for teams involved in research and developing potential treatments and cures for the Covid-19 pandemic. WANdisco provided its LiveData Platform along with technical resources to Korean Bioinformation Center (KOBIC) to assist the organization in enhancing its architecture, developing products, and introducing WANdisco s automated replication technology into KOBIC s work

New method for genome assembly in barley provides excellent results

New publication by iDiv member at IPK Leibniz Institute Based on a press release by IPK Leibniz Institute Gatersleben. Genomes differ between the individuals of one species and we can learn a lot about diversity in our crops by comparing genomes of different varieties. However, researchers that want to study many genomes need a fast and reliable method for sequence assembly. An international research team led by the IPK Leibniz Institute has now investigated a new DNA sequencing method. The results, which have now been published in the journal The Plant Cell, are very promising. The scientists now hope to be able to use the method for assembling other barley genomes in the future.

Study finds significant variation in biomarker test utilization and treatment for non–small-cell lung cancer

Study finds significant variation in biomarker test utilization and treatment for non–small-cell lung cancer Biomarker testing surveys specific disease-associated molecules to predict treatment response and disease progression; however its use has complicated the diagnosis of non-small-cell lung cancer (NSCLC). In a new study in The Journal of Molecular Diagnosis, published by Elsevier, investigators provide for the first time a complete overview of biomarker testing, spanning multiple treatment lines, in a single cohort of patients. Using exploratory data analysis and process-mining techniques in a real-world setting, investigators identified significant variation in test utilization and treatment. They also found that while whole-genome sequencing, in which a patient s unique DNA is mapped at once, may not be a cost saving alternative to biomarker testing, as some have suggested, it may have other benefits for patients, such as decreasing the time between testing and therapy

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