Informatics
- Clinical Coding
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- Data Standards
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- DMuDB
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- Gen2Phen
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- LIMS
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- MLPA
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- SNPCheck
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- Training
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- Universal Browser
NGRL Manchester is particularly strong in its established informatics programme, which aims to maintain and develop key informatics resources and to address new requirements identified within the diagnostic genetic service setting. Our goals are to:
- Maintain and further develop the Diagnostic Mutation Database (DMuDB) and Universal Browser (UB)
- Maintain and update the SNPCheck tool
- Develop and enhance a training programme to support informatics
- Facilitate the production of a specification for clinical genetics IT systems
- Develop and improve informatics and bioinformatics resources for medical genetics through participation in EC-funded projects, Gen2Phen and Clinical Coding.
