Table 1. Terminology used in this manuscript.
Specimen | An individual portion of human, animal, plant, mineral and so on, materials used for scientific research project |
Biospecimen | An individual portion of a substance of biological origin, for example, tissue sample, blood sample, saliva sample and so on, derived from a single participant at a specific time and intended to be used for scientific research project, which in the context of this study is stored in a biobank |
Sample | A synonym for ‘biospecimen', also called ‘biosample', meaning, for example, a blood sample, tissue sample, urine sample and so on A number of biospecimens selected for a particular scientific research project intended to be representative of a given population. For example, an experimental sample might contain 200 cancerous tissue biospecimen samples from various individuals across Europe or 1000 biospecimens of blood taken from various individuals within the United Kingdom |
Biomedical data archive or data bank | A storage and retrieval facility or service for biological and medical data. All data archives have three primary functions: the collection, storage and preservation of data |
Phenotypic variables | A characteristic that varies across a population of interest, for example, height, weight, eye colour, blood pressure and the presence or the absence of various clinical conditions such as diabetes |
VOI | A phenotypic or genotypic variable that is relevant for a particular research project. A selection of such variables is referred to as the VOIs for the research project |
HV | A single unified vocabulary that has been compiled from several individual vocabulary sources. Where there is partial overlap in the meaning of terms from separate vocabularies but with different exact labels used, synonyms from each of the underlying vocabularies are preserved in the resulting HV |
Metadata | Information about, or description of, data. The metadata describing a biospecimen sample collection might include, for example, the number of specimens stored in the collection and summary statistics about the population from which the specimens were collected |
CV | A list of words and phrases intended for use to mark up or index data, selected such that each unit in the vocabulary is unique and unambiguous within the overall vocabulary and thereby the use of controlled vocabularies ensure consistency in annotation |
GWAS | Examines genetic variants, such as SNPs, across the genome in various individuals to see whether any variant is associated with a phenotype, for example, a disease such as diabetes |
Abbreviatons: CV, controlled vocabulary; GWAS, genome-wide association study; HV, harmonised vocabulary; SNP, single-nucleotide polymorphisms; VOI, variables of interest.
These definitions have been synthesised and modified from various sources and discussed among the authors, in order to achieve consistency across the manuscript. Many of these terms are used in different ways in different contexts.