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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Whether you call it effervescent, fizzy, or sparkling, carbonated water is making a comeback as a beverage. Aside from quenching thirst, researchers at the University of Illinois at Urbana-Champaign have discovered a new use for these "bubbly" concoctions that will have major impact on the manufacturer of the world's thinnest, flattest, and one most useful materials -- graphene.
As graphene's popularity grows as an advanced "wonder" material, the speed and quality at which it can be manufactured will be paramount. With that in mind,...
Physicists at the University of Bonn have managed to create optical hollows and more complex patterns into which the light of a Bose-Einstein condensate flows. The creation of such highly low-loss structures for light is a prerequisite for complex light circuits, such as for quantum information processing for a new generation of computers. The researchers are now presenting their results in the journal Nature Photonics.
Light particles (photons) occur as tiny, indivisible portions. Many thousands of these light portions can be merged to form a single super-photon if they are...
For the first time, scientists have shown that circular RNA is linked to brain function. When a RNA molecule called Cdr1as was deleted from the genome of mice, the animals had problems filtering out unnecessary information – like patients suffering from neuropsychiatric disorders.
While hundreds of circular RNAs (circRNAs) are abundant in mammalian brains, one big question has remained unanswered: What are they actually good for? In the...
An experimental small satellite has successfully collected and delivered data on a key measurement for predicting changes in Earth's climate.
The Radiometer Assessment using Vertically Aligned Nanotubes (RAVAN) CubeSat was launched into low-Earth orbit on Nov. 11, 2016, in order to test new...
A study led by scientists of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg presents evidence of the coexistence of superconductivity and “charge-density-waves” in compounds of the poorly-studied family of bismuthates. This observation opens up new perspectives for a deeper understanding of the phenomenon of high-temperature superconductivity, a topic which is at the core of condensed matter research since more than 30 years. The paper by Nicoletti et al has been published in the PNAS.
Since the beginning of the 20th century, superconductivity had been observed in some metals at temperatures only a few degrees above the absolute zero (minus...
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