Open Targets: Integrating genetics, genomics and drug information for translational research and drug discovery (Webinar)

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.

In this 90 minute long webinar, Denise Carvalho-Silva, will focus on Open Targets Platform and Open Targets Genetics, open source tools of integrated genetic, genomic and chemical data for target-disease associations.

Please note that if you are not eligible for a University of Cambridge Raven account you will need to book or register your interest by linking here.

• This course is suitable for anyone who has an interest in biomedical and therapeutic research with a special emphasis on target identification and prioritisation, early stages of drug discovery. It is also useful to those who wish to find out how large-scale genomic experiments, computational and statistical techniques are used to identify and validate the causal links between targets, pathways and diseases.
• Graduate students, Postdocs and Staff members from the University of Cambridge, Affiliated Institutions and other external Institutions or individuals
• There is no fee charged for this event
• Further details regarding eligibility criteria are available here

• Some prior knowledge of basic genetics and molecular biology in addition to familiarity with some existing reference sources (e.g. Ensembl, UniProt, ChEMBL) is desirable.
• No programmatic skills required.

Bioinformatics, Data retrieval, Data visualisation, Database search, Genotype and phenotype, Pharmacogenomics

After this course you should be able to:

• Find diseases associated with human genes
• Explore biological evidence (e.g. germline variants, somatic mutations, differential expression, drugs in clinical trials) behind target-disease associations.
• Retrieve annotations for targets and diseases (e.g. target tractability also known as druggability, target safety, disease classification, latest bibliography from NLP analysis)
• Browse and rank gene-variant associations from UK Biobank and GWAS Catalog data
• Uncover likely causal variants based on fine mapping and colocalization analyses
• Explore and compare independent studies and traits to find common susceptibility loci from GWAS

During this course you will learn about:

• The Open Targets partnership and its goals
• Open Targets bioinformatics resources for target identification and prioritisation
• How to visualise and interpret associations between target and diseases (both common and rare) using graphical user interfaces
• How to get annotations at both target and disease levels
• How to browse and rank gene and variant associations with complex diseases based on functional genomics
• How to start tapping into alternative ways to access this data

Presentations and demonstrations

2 Hours

• EMBL-EBI: Protein Sequence Databases with UniProt
• COSMIC: Integrating and interpreting the world’s knowledge of somatic mutations in cancer
• EMBL-EBI: Bioinformatics resources for exploring disease related data
• Using the Ensembl Genome Browser (ONLINE LIVE TRAINING)