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  • PM16 Precision medicine

    27 - 30 September 2016

    Oeiras, Portugal

    PM16 Precision medicine https://tess.elixir-europe.org/events/pm16-precision-medicine The implementation of cancer genomics into the clinic is becoming a reality. Personalized medicine or Precision medicine as other authors refers, uses molecular data of a specific patient to guide clinical decisions such as prevention, diagnosis and treatment. This will revolutionize healthcare and will play a dominant role in the future of cancer therapy. Bioinformatics analyses are essential to identify patients who will benefit from treatment based on their molecular profile, and to tailor chemotherapeutic regimens accordingly. The aim of the course is to present a complete computational pipeline for the analysis and interpretation of Next-Generation Sequencing (NGS) data such as exome sequencing or targeted panels that are commonly used in the clinic. We will address the implementation of large-scale genomic sequencing in clinical practice and the recently developed computational strategies for the analysis of NGS data with a particular emphasis on the interpretation of the results, selection of biomarkers of drug response and afford opportunities to match therapies with the characteristics of the individual patient's tumour. Exercises and case studies focused on cancer will be used to illustrate the principles of how genetics influence led to refining diagnoses and personalized treatment of cancer disease. 2016-09-27 09:00:00 UTC 2016-09-30 00:00:00 UTC Instituto Gulbenkian de Ciência Instituto Gulbenkian de Ciência, Oeiras, Portugal Instituto Gulbenkian de Ciência Oeiras Portugal 901 [] [] [] workshops_and_courses [] PersonalizedMedicine
  • Computational PANGenomics

    9 - 13 September 2019

    Oeiras, Portugal

    Elixir node event
    Computational PANGenomics https://tess.elixir-europe.org/events/computational-pangenomics Reference genomes have become central to bioinformatics approaches, and form the core of standard analyses using contemporary sequencing data. However, the use of linear reference genomes, which provide the sequence of one representative genome for a species, is increasingly becoming a limitation as the number of sequenced genomes grows. In particular, they tend to bias us away from the observation of variation in the genomes we study. A general solution to this problem is to use a pangenome that incorporates both sequence and variation from many individuals as our reference system. This pangenome is naturally modelled as a graph with annotations and can provide all the functionality traditionally provided by linear reference genomes. Unlike linear reference genomes, a pangenome readily incorporates both small and large variation, allowing bias-free genotyping at known alleles. In this course, we will explore the use of modern bioinformatic tools that allow researchers to use pangenomes as their reference system when engaging in studies of organisms of all types. Such techniques will aid any researcher working on organisms of high genetic diversity or on organisms lacking a high-quality reference genome. This course targets all researchers interested in learning about an exciting paradigm shift in computational genomics. 2019-09-09 09:30:00 UTC 2019-09-13 17:00:00 UTC The Gulbenkian Training Programme in Bioinformatics Instituto Gulbenkian de Ciência (IGC), 6, Rua Quinta Grande, Oeiras, Portugal Instituto Gulbenkian de Ciência (IGC), 6, Rua Quinta Grande Oeiras Portugal 2781-901 Instituto Gulbenkian de Ciência, Biodata.pt - Elixir's portuguese node of the european project bicourses@igc.gulbenkian.pt [] This course is oriented towards biologists and bioinformaticians. The course will be of particular interest to researchers investigating organisms without a reference genome or populations featuring high levels of genetic diversity. 20 workshops_and_courses registration_of_interest BioinformaticsGenomics
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