A meeting was held on 24 February at the Nowgen centre in Manchester to discuss the formation of a steering group to oversee the running of the project and develop guidelines to ensure confidence and accountability.
The committee comprises Andrew Devereau and Ed Burke (NGRL Manchester), Graham Taylor (Clinical Molecular Genetics Society), Alastair Brown (MRC Human Genetics Unit, Edinburgh), Dick Cotton (Human Genomic Variation Society, Australia), Ann Curtis (Northern Molecular Genetics Diagnostic Service), Johan den Dunnen (Leiden University Medical Centre), Ian Frayling (All Wales Laboratory Genetics Service, Cardiff), Andrew Read (Emeritus Professor of Human Genetics, University of Manchester) and Melissa Winter (Genetic Interest Group). The group will make policy decisions on issues such as nomenclature standards, access to data, terminology, standardisation of the data and overall project direction. The establishment of a mandate was discussed, and representation on the group and adoption of formal procedures will be addressed before the next meeting in September.
Aside from benefiting diagnostic services, the database will enable the genetic community to look for disease patterns. Andrew Devereau, Informatics Manager at NGRL Manchester, stresses that “The need to share mutation data is being recognised internationally. Diagnostic services in the UK can have an important role to play as sources of high-quality data and we hope that this project will allow them to make their data available as widely as possible, as well as providing a valuable source of data for their work.”
Pilot testing of the repository is underway with sets of data for Neurofibromatosis 1 and 2 (NF1, NF2) and Cystic Fibrosis (CF), a graphical interface being finalised that allows mutations to be mapped to annotated reference sequences.
Diana van Gent | alfa
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An international team of researchers has discovered a new anti-cancer protein. The protein, called LHPP, prevents the uncontrolled proliferation of cancer cells in the liver. The researchers led by Prof. Michael N. Hall from the Biozentrum, University of Basel, report in “Nature” that LHPP can also serve as a biomarker for the diagnosis and prognosis of liver cancer.
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In just a few weeks from now, the Chinese space station Tiangong-1 will re-enter the Earth's atmosphere where it will to a large extent burn up. It is possible that some debris will reach the Earth's surface. Tiangong-1 is orbiting the Earth uncontrolled at a speed of approx. 29,000 km/h.Currently the prognosis relating to the time of impact currently lies within a window of several days. The scientists at Fraunhofer FHR have already been monitoring Tiangong-1 for a number of weeks with their TIRA system, one of the most powerful space observation radars in the world, with a view to supporting the German Space Situational Awareness Center and the ESA with their re-entry forecasts.
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Fraunhofer Institute for Organic Electronics, Electron Beam and Plasma Technology FEP, provider of research and development services for OLED lighting solutions, announces the founding of the “OLED Licht Forum” and presents latest OLED design and lighting solutions during light+building, from March 18th – 23rd, 2018 in Frankfurt a.M./Germany, at booth no. F91 in Hall 4.0.
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A new scenario seeking to explain how Mars' putative oceans came and went over the last 4 billion years implies that the oceans formed several hundred million...
For the first time, an interdisciplinary team from the University of Basel has succeeded in integrating artificial organelles into the cells of live zebrafish embryos. This innovative approach using artificial organelles as cellular implants offers new potential in treating a range of diseases, as the authors report in an article published in Nature Communications.
In the cells of higher organisms, organelles such as the nucleus or mitochondria perform a range of complex functions necessary for life. In the networks of...
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