26 Apr 2016: Finding and Accessing Human Genomic Data for Research Workshop

Repositive is sponsoring a DNAdigest workshop on 'Finding and Accessing Human Genomic Data for Research'.

Finding and Accessing Human Genomic Data for Research
DNAdigest and Open Data team

Tuesday, April 26, 2016 from 10:00 AM to 12:00 PM (BST)
Cambridge, United Kingdom



Access to raw experimental research data and data reuse is a common hurdle in scientific research. Despite the mounting requirements from funding agencies that the raw data is deposited as soon as (or even before) the paper is published, multiple factors often prevent data from being accessed and reused by other researchers. The situation with the human genomic data is even more dramatic, since, on the one hand, human genomic data is probably the most important data to share - it lies at the heart of efforts to combat major health issues such as cancer, genetic diseases, and genetic predispositions for complex diseases like heart disease and diabetes. On the other hand, since it is sensitive and personal information, it is often exempt from data sharing requirements.

In this workshop we will discuss the current challenges in data sharing, focusing especially on challenges faced by researchers studying cancer and genetic diseases. During the session we will present and demonstrate a number of current tools and resources for finding, accessing and sharing genomic data and discuss best practices for using data to power your hypothesis-testing and maximising your research impact.


From our experience and research on the topic we know that many researchers rely on acquiring external data to validate their research findings, but it is usually a problem to find and access the right type of data.
The goal of this workshop is to make researchers in genetics/genomics aware of the existing challenges with genomic data access and reuse and to present a number of tools and resources that researchers can use directly for simplifying their data access workflows.
The workshop will provide valuable insights for all researchers working in the human genomics field, presenting plenty of tools and resources that attendees can apply directly in their daily workflows as well as presenting opportunities for attendees to set up research collaborations with fellow attendees based on common data interests.


In this workshop we will present a series of presentations and interactive Q&A sessions:

  • Discuss the workflows and ways that researchers use to acquire external data;
  • Review the different access structures for existing open and restricted repositories;
  • Review the practical aspects of data access policies;
  • Talk about the requirements from funding bodies to make data available as well as the requirement for data management plans;
  • Review workflows for submitting data to some common genomic data repositories;
  • Review workflows for applying for access for data for some common genomic data repositories;
  • Review some lesser known sources of genomic data, including specialised repositories, big sequencing projects, biobanks and biotech companies;
  • Discuss and demonstrate a number of existing tools for data discovery, e.g. OmicsConnect, PhenomeCentral, Repositive, cBioportal, Matchmaker Exchange, etc;
  • Try to match up requests for data with available data from either repositories, publicly available sources, or from other attendees;
  • Talk about best practices for data access and advice to young researchers on how to achieve the greatest impact from their data.

Target audience

Researchers in biomedical research at any stage of their research career who use or plan to use external human genomic data in their research (i.e. data from other researchers to compare their results, statistically validate their hypotheses etc) or researchers who would like to know how to make their work more discoverable and impactful.

Organisers and presenters

  • Fiona Nielsen
  • Nadia Kovalevskaya
  • Charlotte Whicher

Fiona Nielsen, founder and CEO of DNAdigest and Repositive, is a bioinformatics scientist turned entrepreneur. She used to work at Illumina developing tools for interpretation of next-generation sequencing data and analysing cancer and FFPE samples sequenced on the latest technology. There she realised how difficult it is to find and get access to genomics data for research, which led to DNAdigest being founded as a charity to promote best practices for efficient and ethical data sharing - aligning the interests of patients and researchers. In August 2014 Repositive Ltd was spun out of DNAdigest as an entity to develop and provide a novel software tools and mechanisms for sharing of data, including a data brokering mechanism, enabling easy access to anonymised aggregated data. Fiona was nominated for the 2013 WiSE award for Entrepreneurship and Innovation.

Nadia Kovalevskaya is an experienced researcher with PhD in biochemistry. She works at Repositive on understanding data access policies as well as the research community perspective, their problems and needs for data access.

Charlotte Whicher is working at Repositive on user experience and genomic data retrieval. She is studying how genomic data repositories work and what data they contain. She has a PhD in Infection and Immunity and experience in genomic data research.

The charity DNAdigest investigates the barriers for ethical and efficient genomic data sharing and engages with all stakeholder groups, including researchers, librarians, data managers, software developers, policy makers, and the general public interested in genomics.

Repositive Ltd. (spin-out of DNAdigest) offers services and tools that reduce the barriers for data access and reuse for the research community in academia, industry, and clinics. To address one of the most pressing problems for researchers who wish to find and use available genomic research data, Repositive has built an online platform facilitating data discoverability providing a single point of entry to find and access data from public and private genomic data repositories.


DNAdigest and University of Cambridge

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