The term Omics refers to a broad set of methods for measuring the type and quantity of various cellular molecules at high resolution, including:
- DNA (genomics)
- DNA-methylation (epigenomics)
- RNA (transcriptomics)
- proteins (proteomics)
- lipids (lipdomics)
- metabolites (metabolomics)
- DNA from populations of organisms (metagenomics)
Omics technologies have had a significant impact across all aspects of life sciences in recent years and are increasingly being applied in biomedical research and clinical practice. Important medical applications include diagnostics, treatment selection and monitoring, and increased understanding of the molecular mechanisms affecting health.
Data generated by omics technologies tend to be large in size and complex in nature, and often require significant computing resources for storage and analysis. On top of this, for human omics, data can reveal sensitive and personal information, such as disease risk and kinship. Therefore storage and analysis of human omics data requires specialised digital infrastructure and a workforce with a diverse range of skills and knowledge.
Aggregated collections of omics data provide important inputs to research, and increasingly there is a push to combine multiple omics data (multi-omics) to answer key questions in biology and health.
Storage, sharing and analysis of human omics data is a complex task. Individuals and organisations engaging in this activity need to juggle legal, ethical and intellectual requirements, along with publishing and funding responsibilities. Navigating the maze of specialities is not an easy task, let alone staying up to date with major omics projects and support agencies that exist in this space.
This Human Omics Data Sharing Field Guide seeks to provide a comprehensive resource that gathers together essential information on a broad range of topics to help individuals and organisations on their genomics data sharing journey. Human omics data sharing and analysis is an inherently international activity, and this guide follows suit, however, some details vary between countries, and in those cases we focus on the Australian perspective.
Structure
To help with navigation we’ve broadly divided it into four main topics:
- Technnologies and Standards: the main technologies involved in omics data sharing and analysis, including software tools and file formats, and the standards that are relevant to the domain, including metadata ontologies.
- Ethical Legal and Social Issues: issues relating to storage and use of sensitive information and how this is viewed from a legal, ethical and social perspective.
- Activities and Agencies: major human omics projects and organisations involved in the generation, storage and analysis of omics data.
- Repositories: significant Australian and international repositories of human omics data.
You can also search the Field Guide using keywords on the Home Page.
Scope and intended audience
As the name suggests the Field Guide aims to provide a map of the human omics data sharing and analytics landscape. It is a complex multi-disciplinary field that covers many different specialities. Therefore the purpose of the Field Guide is to provide a broad overview of the key areas and highlight how they are interconnected. It is not intended to be exhaustive, and where appropriate, links to external authorative sources are provided.
We have approached the topic from the perspective of digital infrastructure, however we recognise that technology has important ethical, legal and social implications. Therefore, while the main focus is on digital infrastructure and technology, the Field Guide also touches on key non-technical topics where appropriate.
The intended audience for the Field Guide includes:
- Newcomers to the field of human omics data sharing and analysis.
- Researchers and clinicians who want a better understanding of the technology landscape, particularly relating to digital infrastructure supporting storage, sharing and analytics.
- Policy makers, funding agencies, and individuals working in healthcare-adjacent fields.
- Students in disciplines that overlap with human omics or with a general interest in the area.
Contributing
We consider this a work in progress and would welcome your feedback and contributions. See the Contribute page for further info on how to contribute to this project.