Glossary of Terms and Abbreviations

Biobank

A collection of biological samples (such as blood) and health information.

Biospecimen

A sample taken from a patient, most frequently blood, urine or semen.

Chromosome

The structures that carry the genes. The human species has 23 pairs, designated 1 to 22 in order of decreasing size and X and Y for the female and male sex chromosomes respectively.

Deoxyribonucleic acid (DNA)

Contains the genetic instructions used in the development and functioning of all known living organisms.

Genes

A hereditary unit consisting of a sequence of DNA that occupies a specific location on a chromosome and determines a particular characteristic in an individual.

Genetic mutation

A difference within an individual's gene sequence resulting in increased risk of developing a disease. A mutation may occur spontaneously, or may be inherited from a parent.

Institutional Review Board (IRB)

A governing body of scientists, doctors and consumers at each health care facility that reviews research projects to protect study participants.

Medical information

Answers provided on a questionnaire, information from the medical record, and data from a donated sample.

Plasma

The yellow liquid component of blood, in which the blood cells are suspended.

Serum

A fluid component of clotted blood.