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4 events found

Scientific topics: Pharmacogenomics  or Exome sequencing 

and

City: Bogota  or Athens  or Boston  or Cambridge  or Bern  or Munich 

  • Analysis of mapped NGS data with SeqMonk

    3 February 2016

    Cambridge, United Kingdom

    Elixir node event
    Analysis of mapped NGS data with SeqMonk https://tess.elixir-europe.org/events/analysis-of-mapped-ngs-data-with-seqmonk-43412e62-e3fc-4434-a56e-41cec9577dbf [SeqMonk](http://www.bioinformatics.babraham.ac.uk/projects/seqmonk/) is a graphical program for the visualisation and analysis of large mapped sequencing datasets such as ChIP-Seq, RNA-Seq, and BS-Seq. The program allows you to view your reads against an annotated genome and to quantitate and filter your data to let you identify regions of interest. It is a friendly way to explore and analysis very large datasets. This course provides an introduction to the main features of SeqMonk and will run through the analysis of a couple of different datasets to show what sort of analysis options it provides. Further information is available [here](http://www.bioinformatics.babraham.ac.uk/training.html#seqmonk). 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 by linking [here](http://marstons.bio.cam.ac.uk/course-booking/?CourseID=Analysing%20mapped%20NGS%20data%20with%20SeqMonk_bioinfo-seqmonk_03.02.2016_1572361&CourseName=Analysing%20mapped%20NGS%20data%20with%20SeqMonk&CourseDate=03.02.2016&CourseDuration=1&EventID=1572361).'' 2016-02-03 09:30:00 UTC 2016-02-03 17:30:00 UTC University of Cambridge Craik-Marshall Building, Cambridge, United Kingdom Craik-Marshall Building Cambridge United Kingdom CB2 3AR RNA-Seq Exome sequencing Data mining Data visualisation ChIP-seq Bioinformatics University of Cambridge Bioinformatics Training [] Graduate studentsPostdocs and Staff members from the University of CambridgeInstitutions and other external Institutions or individuals workshops_and_courses [] HDRUK
  • Variant Analysis with GATK

    13 - 14 June 2016

    Cambridge, United Kingdom

    Elixir node event
    Variant Analysis with GATK https://tess.elixir-europe.org/events/variant-analysis-with-gatk-3624e45d-cd74-4297-bc4c-d40298e39632 This workshop will focus on the core steps involved in calling variants with the [Broad’s Genome Analysis Toolkit](https://www.broadinstitute.org/gatk/), using the “Best Practices” developed by the GATK team. You will learn why each step is essential to the variant discovery process, what are the operations performed on the data at each step, and how to use the GATK tools to get the most accurate and reliable results out of your dataset. In the course of this workshop, we highlight key functionalities such as the GVCF workflow for joint variant discovery in cohorts, RNAseq­ specific processing, and somatic variant discovery using MuTect2. We also preview capabilities of the upcoming GATK version 4, including a new workflow for CNV discovery. The workshop is composed of one day of lectures (including many opportunities for Q&A) and one day of hands­on training. On the first day, we explain the rationale, theory and application of our Best Practices for Variant Discovery in high­-throughput sequencing data. On the second day, we walk attendees through hands­on exercises that teach how to manipulate the standard data formats involved in variant discovery and how to apply GATK tools appropriately to various use cases and data types. In the course of these exercises, we demonstrate useful tips and tricks for interacting with GATK, dealing with problems, and using third­party tools such as Samtools, IGV and RStudio. Please note that this workshop is focused on human data analysis. The majority of the materials presented does apply equally to non ­human data, and we will address some questions regarding adaptations that are needed for analysis of non­ human data, but we will not go into much detail on those points. The timetable can be found [here](http://bioinfotraining.bio.cam.ac.uk/postgraduate/specialized/gatk). 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=Variant%20Analysis%20with%20GATK%20_13-14.06.2016_1572767&CourseName=Variant%20Analysis%20with%20GATK&CourseDate=13-14.06.2016&CourseDuration=2&EventID=1572767).'' 2016-06-13 08:30:00 UTC 2016-06-14 16:00:00 UTC University of Cambridge Craik-Marshall Building, Cambridge, United Kingdom Craik-Marshall Building Cambridge United Kingdom CB2 3AR RNA-Seq Genomics Exome sequencing Data visualisation Data mining ChIP-seq Bioinformatics University of Cambridge Bioinformatics Training [] The lecture­ based component of the workshop is aimed at a mixed audience of people who are new to the topic of variant discovery or to GATKseeking an introductory course into the toolsor who are already GATK users seeking to improve their understanding of and proficiency with the tools.The hands­on component is aimed at novice to intermediate users who are seeking detailed guidance with GATK and related tools.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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