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3 events found

Scientific topics: Genotype and phenotype 

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City: Bogota  or Copenhagen  or Cambridge  or Norwich  or Rotterdam  or Seattle 

  • Interpreting the clinical genome with DECIPHER

    8 July 2016

    Cambridge, United Kingdom

    Elixir node event
    Interpreting the clinical genome with DECIPHER https://tess.elixir-europe.org/events/interpreting-the-clinical-genome-with-decipher [DECIPHER](https://decipher.sanger.ac.uk/) 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](http://www.ucs.cam.ac.uk/docs/faq/raven/n5) account you will need to Book or register Interest by linking [here](http://marstons.bio.cam.ac.uk/course-booking/?CourseID=Interpreting%20the%20clinical%20genome%20with%20DECIPHER_bioinfo-dec_08.07.2016_1734472&CourseName=Interpreting%20the%20clinical%20genome%20with%20DECIPHER&CourseDate=08.07.2016&CourseDuration=0.5&EventID=1734472).'' 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
  • Open Targets: Integrating genetics and genomics for disease biology and translational medicine

    12 June 2018

    Cambridge, United Kingdom

    Elixir node event
    Open Targets: Integrating genetics and genomics for disease biology and translational medicine https://tess.elixir-europe.org/events/mining-gene-disease-associations-and-drug-target-validation-with-open-targets-90729d53-0eaf-43b3-880e-9ca711ec5453 Open Targets is a public-private partnership to use human genetics, genomic data and drug information for systematic identification and prioritisation of therapeutic targets. The consortium was founded in 2014 by GSK, EMBL-EBI and the Wellcome Sanger Institute, and later welcomed three new partners, Biogen, Takeda, and Celgene. Underpinning this partnership is the [Open Targets Platform](https://www.targetvalidation.org/), an open source, user-friendly web interface to investigate causal links between genes, pathways and diseases. These links are computed, scored and ranked using biological evidence integrated from many public [data sources](https://www.targetvalidation.org/data-sources), including the NHGRI-EBI GWAS Catalog, Genomics England, PheWAS, ClinVar, Expression Atlas, UniProt, and ChEMBL to name a few. In addition to data integration, Open Targets also generates new data using human cellular models (e.g. organoids, iPSCs) and genome editing (CRISPR/Cas9) to identify drug targets in oncology, immunology and neurodegenerative diseases. This will be publicly available in the public domain and integrated into the Open Targets Platform. Please note that if you are not eligible for a University of Cambridge [Raven](http://www.ucs.cam.ac.uk/docs/faq/raven/n5) account you will need to book or register your interest by linking [here](http://bioinfotraining.bio.cam.ac.uk/booking-form/?event-id=2487585&course-title=OpenTargets%20workshop).'' 2018-06-12 12:00:00 UTC 2018-06-12 15:00:00 UTC University of Cambridge Craik-Marshall Building, Cambridge, United Kingdom Craik-Marshall Building Cambridge United Kingdom CB2 3AR Pharmacogenomics Genotype and phenotype Data visualisation Bioinformatics University of Cambridge Bioinformatics Training [] This course is suitable for all users who have an interest in biomedical research and therapeutics. A special emphasis will be given on drug discovery and target validation. It will also be useful to those who seek for practical examples on how large-scale genomic experiments and computational techniques are integrated and visualised in a web platform.Graduate studentsPostdocs and Staff members from the University of CambridgeInstitutions and other external Institutions or individuals workshops_and_courses [] HDRUK
  • Open Targets: Integrating genetics and genomics for disease biology and translational medicine

    17 October 2019

    Cambridge, United Kingdom

    Elixir node event
    Open Targets: Integrating genetics and genomics for disease biology and translational medicine https://tess.elixir-europe.org/events/open-targets-integrating-genetics-and-genomics-for-disease-biology-and-translational-medicine Open Targets is a public-private partnership to use human genetics, genomic data and drug information for systematic identification and prioritisation of therapeutic targets. This module introduces the Open Targets partnership, its underlying projects and the bioinformatics resources for researchers studying associations of human genes with diseases. We offer interactive and hands-on experience with Open Targets Platform and Open Targets Genetics, open source tools of integrated biological and chemical data for drug target identification and prioritisation. We cover user cases relevant to the biomedical and pharmaceutical communities and can customise the course according to specific therapeutic areas. The training room is located on the first floor and there is currently no wheelchair or level access available to this level. Please note that if you are not eligible for a University of Cambridge [Raven](http://www.ucs.cam.ac.uk/docs/faq/raven/n5) account you will need to book or register your interest by linking [here](http://bioinfotraining.bio.cam.ac.uk/booking-form/?event-id=3093271&course-title=OpenTargets%20workshop).'' 2019-10-17 12:00:00 UTC 2019-10-17 16:00:00 UTC University of Cambridge Craik-Marshall Building, Cambridge, United Kingdom Craik-Marshall Building Cambridge United Kingdom CB2 3AR Pharmacogenomics Genotype and phenotype Data visualisation Bioinformatics University of Cambridge Bioinformatics Training [] This course is suitable for anyone who has an interest in biomedical research and therapeutics with a special emphasis on drug discovery and target validation. It is also useful to those who wish to find out how large-scale genomic experimentscellular models of disease and computational techniques are used to identify and validate the causal links between targetspathways and diseases.Graduate studentsPostdocs and Staff members from the University of CambridgeInstitutions and other external Institutions or individuals workshops_and_courses [] HDRUK
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