Saturday 27th – Tuesday 30th May 2017
European Human Genetics Conference 2017
Venue: BBC – Bella Center
Hall C (exhibition area), Center Blvd. 5, 2300 Copenhagen S, Denmark
Repositive is delighted to announce our participation at the ESHG Exhibit 2017, held 27th – 30th May, in Copenhagen, Denmark.
Our Scientific Lead, Manuel Corpas, will be attending this event to hold a unique Satellite workshop on Finding & accessing human genomic data. We will also have a poster and a stand featured in the exhibit area.
The conference will cover all aspects of human genetics, from cutting edge research into the human genome and individual genetic or chromosomal conditions, right through to the practical issues of organising genetic services to deliver the benefits of this knowledge to our populations.
Finding & Accessing Human Genomic Data Workshop
Sunday 28th May | Time 19:15 - 20:45
RSVP at Eventbrite
Researchers increasingly rely on third party data to perform their experiments.
The goal of this workshop is:
- To identify existing genomic datasets that best match your research needs
- To select and filter datasets according to criteria such as data source provenance and assay type
- To gain immediate access to readily downloadable open human genomic data
This is a hands-on workshop which will provide you:
1) A strong foundation on how to quickly find reusable genomic data
2) A practical demonstration of Repositive, the leading human genomic dataset finding platform.
Workshop host: Manuel Corpas
Manuel Corpas - Scientific Lead at Repositive. Manuel has done pioneering work in exploring his personal genome, through direct to consumer genomic testing and online international collaboration. He crowdfunded the DNA sequencing for both himself and his family, and he was the first to publish the complete collection of genomic data for his family online as Open Access. Manuel was previously Project Leader for plant and animal genomes at TGAC (now Earlham Institute), and his earlier roles included Sanger, EBI (European Bioinformatics Institute) and the Spanish National Bioinformatics Centre. Alongside his role at TGAC/Earlham, Manuel was also the ELIXIR-UK Technical Coordinator and board director of the International Society for Computational Biology (ISCB). Read more about Manuel.
After this course you should be able to:
- Find all genomic data available for a particular condition (e.g. disease, healthy state, controls, validation studies)
- Understand the most suitable genomic data repository for your needs
- Submit data to genomic data repositories following best practices
During this workshop you will learn about:
- Current challenges in data sharing, focusing especially on researchers studying human genomic datasets
- A number of tools and resources for finding, accessing and sharing genomic data: namely that of Repositive, but also addressing others such as EGA (European Genome Phenome Archive), dbGaP, GigaScience, Nature Scientific Data and figshare
- Best practices for using data to power hypothesis testing and maximising research impact
2017-A-754-ESHG: Title: Simplifying access to human genomic data
Author: Nadia Kovalevskaya
Common practice suggests that human genomic data should be deposited in public repositories for further reuse. Finding and accessing deposited genomic datasets, however, is often cumbersome, with data and metadata being scattered throughout the Internet, annotated inconsistently and often machine unreadable. This makes it difficult for researchers to find existing genomic datasets of interest.
Genomic data sources were identified from our interactions with the genomics community, by monitoring announcements and by targeted searching of the Internet. State-of-the-art interfaces have been deployed on top of our database to facilitate the discovery of existing human genomic datasets through a variety of filters and querying options such as assay type or keyword.