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Scientific topics: Rare diseases 


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  • Interpreting the clinical genome with DECIPHER

    8 July 2016

    Cambridge, United Kingdom

    Elixir node event
    Interpreting the clinical genome with DECIPHER [DECIPHER]( is a collaborative data sharing and interpretation platform that enables the secure upload, analysis and subsequent sharing of anonymised phenotype-linked patient variant data in rare genetic disorders. DECIPHER is a worldwide user community of over 250 clinical genetics centres and research groups from over 40 countries that utilise the built-in tools for aiding the interpretation of variants as well as to discover other patients that share similar phenotype and genomic findings. DECIPHER facilitates collaboration and exchange of information between a global community of clinical centers and researchers leading thereby accelerating discovery and diagnosis. Access to consented anonymised records is free to all users. User accounts are provided to bona-fide clinicians and lab scientists to enable deposition and sharing of anonymised patient data. The purpose of this half-day workshop is to acquaint participants with the DECIPHER website and database and introduce the various built-in tools for visualisation and interpretation of phenotype-linked genomic variation in anonymised consented patient data. It is hoped that by the end of this workshop, users will be able to carry out effective searches of data, use the built-in genome browser to visualise variation in context of other pathogenic and reference data sources, find other patients with similar variants and shared phenotypes, and identify most likely causes of phenotypic presentation by gene prioritisation. Please note that if you are not eligible for a University of Cambridge [Raven]( account you will need to Book or register Interest by linking [here]('' 2016-07-08 08:30:00 UTC 2016-07-08 11:30:00 UTC University of Cambridge Craik-Marshall Building, Cambridge, United Kingdom Craik-Marshall Building Cambridge United Kingdom CB2 3AR Rare diseases Genotype and phenotype Genomics Bioinformatics University of Cambridge Bioinformatics Training [] This course is suitable for all users who have an interest in Clinical Genetics with a special emphasis on rare disorders. It is also pertinent to those who seek to develop a better understanding of the role of accurate phenotyping in aiding the interpretation of filtered variants in patients and understanding genotype-phenotype correlations.Graduate studentsPostdocs and Staff members from the University of CambridgeInstitutions and other external Institutions or individuals workshops_and_courses [] HDRUK

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