Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Diagnostic Mutation DataBase (DMuDB); Great Expectations for Genetic Testing

12.06.2006
The Diagnostic Mutation Database (DmuDB) was launched by the National Genetics Reference Laboratory (NGRL) in Manchester early 2005, aiming to provide a route for sharing mutation data within and between diagnostic laboratories in the UK and for publishing mutations from diagnostic labs. This project focuses on the development of a repository which allows easy submission of data which can then be shared with other labs while protecting patient confidentiality, and which can be a route to publication of the data. The database is being developed by Andrew Devereau and Ed Burke.

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
Further information:
http://www.ngrl.org.uk/Manchester/Downloads/Informatics/DMuDB%20report.pdf

More articles from Information Technology:

nachricht New software speeds origami structure designs
12.10.2017 | Georgia Institute of Technology

nachricht Seeing the next dimension of computer chips
11.10.2017 | Osaka University

All articles from Information Technology >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Neutron star merger directly observed for the first time

University of Maryland researchers contribute to historic detection of gravitational waves and light created by event

On August 17, 2017, at 12:41:04 UTC, scientists made the first direct observation of a merger between two neutron stars--the dense, collapsed cores that remain...

Im Focus: Breaking: the first light from two neutron stars merging

Seven new papers describe the first-ever detection of light from a gravitational wave source. The event, caused by two neutron stars colliding and merging together, was dubbed GW170817 because it sent ripples through space-time that reached Earth on 2017 August 17. Around the world, hundreds of excited astronomers mobilized quickly and were able to observe the event using numerous telescopes, providing a wealth of new data.

Previous detections of gravitational waves have all involved the merger of two black holes, a feat that won the 2017 Nobel Prize in Physics earlier this month....

Im Focus: Smart sensors for efficient processes

Material defects in end products can quickly result in failures in many areas of industry, and have a massive impact on the safe use of their products. This is why, in the field of quality assurance, intelligent, nondestructive sensor systems play a key role. They allow testing components and parts in a rapid and cost-efficient manner without destroying the actual product or changing its surface. Experts from the Fraunhofer IZFP in Saarbrücken will be presenting two exhibits at the Blechexpo in Stuttgart from 7–10 November 2017 that allow fast, reliable, and automated characterization of materials and detection of defects (Hall 5, Booth 5306).

When quality testing uses time-consuming destructive test methods, it can result in enormous costs due to damaging or destroying the products. And given that...

Im Focus: Cold molecules on collision course

Using a new cooling technique MPQ scientists succeed at observing collisions in a dense beam of cold and slow dipolar molecules.

How do chemical reactions proceed at extremely low temperatures? The answer requires the investigation of molecular samples that are cold, dense, and slow at...

Im Focus: Shrinking the proton again!

Scientists from the Max Planck Institute of Quantum Optics, using high precision laser spectroscopy of atomic hydrogen, confirm the surprisingly small value of the proton radius determined from muonic hydrogen.

It was one of the breakthroughs of the year 2010: Laser spectroscopy of muonic hydrogen resulted in a value for the proton charge radius that was significantly...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

ASEAN Member States discuss the future role of renewable energy

17.10.2017 | Event News

World Health Summit 2017: International experts set the course for the future of Global Health

10.10.2017 | Event News

Climate Engineering Conference 2017 Opens in Berlin

10.10.2017 | Event News

 
Latest News

Osaka university researchers make the slipperiest surfaces adhesive

18.10.2017 | Materials Sciences

Space radiation won't stop NASA's human exploration

18.10.2017 | Physics and Astronomy

Los Alamos researchers and supercomputers help interpret the latest LIGO findings

18.10.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>