Glossary of Genomics, Data, and Governance Terms

 

B

Background Variant Library (BVL) is a list or collection of all the DNA variants in a group of people without severe genetic conditions, which helps to determine variants that are common or rare in the general population.

 

C

The Canadian Precision Health Initiative (CPHI) is a large national effort led by Genome Canada that aims to advance precision health by funding large-scale, interdisciplinary research. It is designed to support research projects that integrate genomics, artificial intelligence, clinical data, and health system science to improve disease prevention, diagnosis, and treatment across diverse populations. The potential development of shared genomic data resource (Pan-Canadian Genome Library) is intended to enable and accelerate research, with the primary emphasis on knowledge generation, translational innovation, and integration of research findings into clinical practice and health policy. Read more...

Clinical Research is research with the goal of improving the diagnosis, and treatment (including rehabilitation and palliation), of disease and injury; improving the health and quality of life of individuals as they pass through normal life stages.  Read more...

COVID-19  shorthand for Coronavirus Disease - 2019

 

D

DNA (deoxyribonucleic acid)  is the genetic material we inherited from our parents, providing instruction in all of our cells for our body to function. DNA is made up of a string of four different "letters" including A, C, G, and T; this string can be read by our cells in different sequences. There are 3 billion DNA letters in each of our cells to provide these instructions.[Back to the IBVL page] [Back to Precision Diagnosis Study page]

DNA Variant is a result of a changed, added, deleted, or moved letter in the DNA. Humans share 99.9% similarity in DNA letters. the 0.1% difference between people are "variants" that make each of us unique. There are both harmless variants and disease-causing variants (previously known as "mutations"). The occurrence of variants in a population can range from frequent to rare between groups of people. [Back to the IBVL page] [Back to Precision Diagnosis Study page]

DNA vaccines contains a "blueprint" in the form of DNA to create the defense to help your body protect itself when encountering the virus. your body will build antibody proteins with the mRNA information. The antibodies will be able to fend off the virus that enters your body. The message from the blueprint can be recalled when needed.

 

F

A federated governance model refers to an approach in which data are held and managed by independent data holders rather than stored in a single centralized repository. Under a federated model, participating data holders retain control over their own data, including governance, storage location, access rules, and decision-making authority, while shared technical standards or interfaces across the network. This model is often used to accommodate differing legal, ethical, and governance requirements.

 

G

Gene - section of DNA that gives a specific instruction that tells our cells how to function. For example, certain genes code for eye colour, while other genes tell our kidneys or heart how to work. Each person has about 25,000 different genes. Genes come in pairs, as we inherit one set of genes from our father and the other set from our mother. [Back to the IBVL page] [Back to Precision Diagnosis Study page]

Genetic Condition - a health condition caused by disease-causing DNA variants that can be inherited from our parents or happen randomly in the body in a lifetime.

Genetic Counsellor - a trained individual to help you with genetic testing decisions and navigate the results of tests. Read more...​

Geneticist (Medical Geneticist) - a trained medical doctor who makes a diagnosis of the genetic disease or condition. Read more...​

Genome - all the DNA in an individual. [Back to the IBVL page] [Back to Precision Diagnosis Study page]

Genomics is the science of understanding, interpreting, and harnessing this DNA code to create real-world solutions. Read more...

I

The Indigenous Background Variant Library (IBVL) is a database showing the frequency of each DNA variant found in a population of Indigenous peoples who do not have severe pediatric genetic conditions. Read more...

 

P

The Pan-Canadian Genome Library (PCGL) is a developing national initiative that aims to establish a genomic data infrastructure across Canada to support research and clinical systems. It aims to enable secure access to genomic and associated health data generated across jurisdictions, while respecting provincial authority, data governance, privacy, and ethical frameworks. PCGL is intended to create shared infrastructure that will support discovery research, clinical translation, and health system innovation over time. Within the PCGL federated model, the Indigenous Background Variant Library (IBVL) participates as a distinct node whose data remain stewarded and governed under Indigenous-led governance, with its own storage arrangements, access rules, and decision-making authority. Read more...

Polymerase Chain Reaction (PCR) - a technique to make many copies of a specific region of RNA or DNA in a test tube. In the case of SARS-CoV-2 or COVID-19, PCR allows for detection of its RNA for patient testing of COVID-19 cases. [Back to the IBVL page] [Back to Precision Diagnosis Study page]

Precision Diagnosis - accurate and timely explanation of each patient's health problem. Read more...

 

R

RNA (ribonucleic acid) - is the genetic material used to lead the building of proteins, used in humans and viruses. RNA is made up of a string of four different "letters" including A, C, G, and U; this string can be read by cells in different sequences. 

RNA variants - a result of a changed, added, deleted, or moved letter in the RNA.

mRNA vaccines - contains a "blueprint" in the form of messenger RNA to create the defense to help your body protect itself when encountering the virus. your body will build antibody proteins with the mRNA information. The antibodies will be able to fend off the virus that enters your body. The message from the blueprint can be recalled when needed.

 

S

SARS-CoV-2 - the official scientific name of the virus, named the severe acute respiratory syndrome coronavirus 2 that causes COVID-19

 

V

Virus - a parasite of cells that relies on the contents of other cells for its survival. It has genetic material (DNA or RNA), where it keeps all information about itself.

 

W

Whole Genome Sequencing - a technology that examines the entire genetic material of an individual. This allows for the identification of DNA variants that may allow for the diagnosis of genetic conditions. [Back to the IBVL page] [Back to Precision Diagnosis Study page]

Whole Exome Sequencing - a technology that examines only coding genetic material (proteine-coding genes) of an individual. This allows for the identification of DNA variants in protein-coding regions that may allow for the diagnosis of genetic conditions.