The Simple guide to science page covers the science behind the project. Below are just some reminders of the scientific terms used in the project and introduces terms commonly seen in European research projects.
Deliverables
These are the practical outcomes of the project. Each Work Package has a set of deliverables it needs to complete. The deliverables have deadlines that occur throughout the lifetime of the project. For the B1MG project, you can find a table of the deliverables in the Resources section, and they are also listed within each Work Package page.
DNA (deoxyribonucleic acid)
This is the hereditary material that is in every cell in our body. It contains our genes. Most DNA is in the nucleus of each cell, but some exists in a part of the cell called the mitochondria (mitochondrial DNA).
Federated
In the B1MG project, we talk about 'federated access' to data. This means that instead of gathering data from around Europe into one huge database, the data remains in its host country and is made accessible from elsewhere. It joins a network of other national databases in a single infrastructure that has common standards for describing and accessing the data.
Gene
A gene is a sequence of nucleotides. Nuceotides are molecules that link together to make up our DNA. Each gene is a section of nucleotides that serves a particular purpose. Often the purpose is to make proteins. We have two copies of each gene, one inherited from each parent. The human genome contains 20,000 to 25,000 genes.
Genome
Our genome is all of the genetic material (DNA) in our body, so it includes all of our genes.
Genotype
An individual's collection of genes. Humans have a lot of DNA in common (which makes our common human characteristics). But some genes vary from individual to individual, so our genotype is unique to ourselves. We inherit our genotype from our parents.
Infrastructure
See Research Infrastructure.
Pharmacogenomics
The study of how our genes affect our response to a drug. In personalised medicine it is possible to choose a drug that is most effective for an individual based on their genotype.
Phenotype
These are our observable characteristics. These include obvious characteristics like our height, skin colour and eye colour but also include our medical history and our behaviour. Our phenotype is the result of our genes plus environmental factors like nutrition and stress. Unlike our genotype, our phenotype is not inherited.
Research infrastructure
When we talk about an 'infrastructure' we normally mean the physical components that connect countries or cities, like the road, rail, or telecommunications systems. But in European research projects an 'infrastructure' is an international network of resources and services that enable science to be carried out. These might include:
- Research equipment: often this is expensive equipment that is only available in some countries e.g. a microscope facility, a supercomputer centre. The infrastructure members make this available across the whole infrastructure. You may also be able to log in to a supercomputer in another country, for example, transfer your data to it, and use it to analyse large data sets. Without the infrastructure in place, you could not have done this.
- Databases: sometimes data is only available to national researchers, but by being part of an infrastructure then the data is available to all the researchers within the infrastructure.
- Standards and best practice guidelines: the infrastructure members often develop standards to describe data, so that the data across the countries in the infrastructure is described in the same way. This makes it easier to find and compare. They may also develop best practices for managing data or for conforming to legal requirements.
- Training courses and materials: often people need training in using research equipment and software, or following standards and best practices. Trainers from around the infrastructure offer face to face training or online training, and develop training materials to help people use the infrastructure resources.
So a research infrastructure gives researchers access to far more data, resources and expertise than they had access to before. The infrastructure helps them gain new insights, create innovative products and services, and ultimately it benefits the economy and wellbeing of society.
Use Cases
Use Cases in the B1MG project provide the concrete challenges the Work Packages (WPs) will have to address. They help the WP participants to focus their work and track their progress. These challenges are usually expressed as user stories that describe concrete unmet needs researchers and clinicians are facing when accessing genomic data. In B1MG, the Use Cases come from the 1+MG Use Cases Working Groups:
- WG8 Rare Diseases
- WG9 Cancer
- WG10 Common and complex diseases
- WG11 Host susceptibility for Infectious diseases (Or Infectious Disease)
Whole Genome Sequencing (WGS)
WGS is a way of finding the nucleotide sequence of a person's DNA. This makes it is possible to identify the unique characteristics of a person's DNA.
Work Package (WP)
'Work Package' is a project management term for a cluster of people, tasks and activities that address a set of related objectives. In B1MG, for example, Work Package 2 (WP2) has objectives addressing the Ethical, Legal and Social Issues (ELSI) around sharing health data across Europe. Each WP has objectives, tasks that will deliver those objectives, and deliverables that are the outputs of the tasks. See Work Packages.
See also: