Genomics uses a lot of jargon that can be hard to understand for those not trained in the field. Our simple glossary has definitions for important or frequently encountered concepts in genomics.



One of two or more forms of a particular gene at a specific position on a chromosome.

Allelic heterogeneity
Different mutations in the same gene can lead to the same disease. For example, Duchenne Muscular Dystrophy is caused by large deletions in the dystrophin gene 70% of the time but other mutations in this dystrophin gene can lead to the same disease presentation.

Alternative splicing view
The process where the initial strand of RNA copied directly from DNA is cut up (spliced) and pieced together into different messages (mRNAs) and can lead to different proteins from the same region of DNA. Thus, one gene can be the source of several proteins that differ in function or time and place of action.

Amino acid view
The building blocks for proteins. Composed primarily of carbon, hydrogen oxygen and nitrogen, these organic molecules all contain a basic amino group (NH2) and an acidic carboxyl group (COOH) and hence, the truly logical moniker, amino acid. To keep on living and loving, we humans need 20 of them. Each amino acid contains a unique side chain that varies from the single hydrogen atom of glycine to the sulphur-containing side chains of cysteine and methionine. Our bodies make 12 and we get the other 8 (the 8 essential amino acids) from our food.

A prenatal procedure that can examine the DNA of a fetus. It involves removing a small amount of fluid from around the developing baby (amniotic fluid) with a needle into the uterus. The amniotic fluid has some of the baby’s cells that can undergo various lab tests. It can diagnose genetic disorders based on chromosomes such as Down syndrome or conditions with smaller gene mutations like cystic fibrosis.

Amniotic fluid
The fluid surrounding the fetus in the uterus. It is mostly water but also has cells sloughed off from the fetus, secretions from the placenta and fetal urine. These fetal cells can be examined for chromosomal and genetic disorders.

Study of the structure of plants and animals and determined by dissection.

The body’s method for disposing of unwanted cells. Otherwise known as programmed cell death, apoptosis is a deliberate ‘suicide’ where a cell dies in an organized way. This is in contrast to necrosis, the ‘messy and violent’ form of cell death. Apoptosis is important when there are a lot of changes such as during fetal development.

A laboratory method used to quantitatively determine the amount of a given substance in a particular sample.

Autoimmune disease
Disease in which the immune system confuses the patient’s own cells for foreign cells and attacks them.

The chromosomes other than the sex chromosomes. Human beings have 22 pairs of autosomes (chromosomes 1-22) and two sex chromosomes, two Xs if you are female and XY if you are male.


This is a process used in research to create a plant/animal that is genetically very similar to one of the parents. Offspring are mated with one of their parents or a plant/animal that is genetically similar to the parents to create a plant/animal with similar genetic backgrounds.

A member of a large group of unicellular microorganisms that have cell walls but lack organelles and an organized nucleus.

Base pair view
A base is the variable component of a nucleic acid. DNA contains the four bases thymine (T), cytosine (C), adenine (A) and guanine (G). These bases form base pairs along the length of the DNA helix. A pairs with T, while G pairs with C. The order of these bases (ATCG) composes the DNA sequence.

Bioinformatics is the science of managing and analyzing biological information, usually with advanced computing techniques.

BLAST view
BLAST stands for Basic Local Alignment Search Tool and is a computer program that compares DNA or protein sequences. When you enter your favorite sequence, BLAST searches a database of biological sequences for similar sequences. This allows researchers to identify similar genes in the same or other organisms.

BReast CAncer 1 and 2 genes are examples of tumour suppressors that normally help to restrain cell growth. When these genes are mutated and inactivated, cells can grow too much and cancer develops. Someone who has inherited a mutation in BRCA1/BRCA2 has an increased risk of breast (for both women and men), ovarian or prostate cancer.


Malignant, ill-regulated proliferation of cells causing either a solid tumour or other abnormal conditions. Usually fatal if untreated. Cancer cells are abnormal in many ways particularly in their ability to multiply indefinitely, to invade underlying tissue and to migrate to other sites in the body and multiply there (See: metastasis).

Candidate gene
A gene suspected to cause or contribute to a disease. The gene’s function and place of action should suggest a role in the disease in question. For example, the gene coding for a protein that works in the brain and regulates neuron transmitters may be a good candidate for causing depression.

A sugar molecule. Carbohydrates can be small and simple (for example, glucose) or they can be large and complex (for example, polysaccharides such as starch).

Carrier (of a genetic disease)
Someone who has a disease-causing mutation in their DNA but does not show any symptoms. One way this happens is in recessive disorders when someone has one healthy and one faulty version of the disease-causing gene.

Cell view
The smallest unit of life that can exist independently. All organisms are made up of one or more cells

A region on a chromosome where the kinetochore assembles and at which a chromosome becomes attached to the microtubules of the spindle during mitosis or meiosis.

An organism developing from an embryo composed of cells from two different individuals and therefore composed of cells of two different gentoypes. Compare to: mosaic

Chorionic Villus Sampling (CVS)
A prenatal procedure that cultures tissue that can be used to examine the DNA of fetal cells from the placenta (chorionic villi). CVS is commonly used to diagnose chromosome conditions like Down syndrome.

A complex of macromolecules found in cells, consisting of DNA, protein and RNA. The primary functions of chromatin are 1) to package DNA into a smaller volume to fit in the cell, 2) to reinforce the DNA macromolecule to allow mitosis, 3) to prevent DNA damage, and 4) to control gene expression and DNA replication.

Chromosome view
A long, twisted and folded-up piece of DNA. Each species has a characteristic number of chromosomes. Humans, for example, have 46, 23 contributed by each parent.

Cleft lip
Resulting from both genes and environment, causes a visible split of the upper lip.

An organism, either single celled or multicellular, that has the exact same DNA as another organism. For example, plant cuttings are clones.

Two different versions of a gene contribute to the final trait so that neither version is masked by the other. For example, if a woman with blood type A passed on the A allele and a man (blood type B) passed on a B allele, their child would be AB.

Codon view
Three adjacent bases (letters) in mRNA that “code” for a particular amino acid in protein translation. There are 64 possible 3-letter combinations of the bases but only 20 amino acids, so several of the codons code for the same amino acid.

A property of nucleic acids, whereby adenine (A) always pairs with thymine (T) while cytosine (C) always pairs with guanine (G). Two strands of DNA that pair perfectly are called complementary.

Referring to a trait in an organism that is present at its birth. The congenital trait can be due to genetic factors, environmental ones or a mixture of both.

Conserved genes
Genes similar across species; that is, conserved through evolution. So they are likely well-used and necessary for survival. For example, all organisms have very similar genes handling DNA through cell division.

Covalent bond
A chemical bond formed by the sharing of electrons between two atoms.

CRISPR stands for clustered regularly interspaced short palindromic repeat and is a customizable tool that lets scientists cut and insert small pieces of DNA at precise areas along a DNA strand. The tool is composed of two basic parts: the Cas9 protein, which acts like the wrench, and the specific RNA guides, CRISPRs, which act as the set of different socket heads. These guides direct the Cas9 protein to the correct gene, or area on the DNA strand, that controls a particular trait.

Crossing over
A process that occurs during meiosis. Two members of a chromosome pair twist around one another and exchange genetic information. Genetic material is ‘shuffled’ so that each gamete contains a unique combination of its parent’s genes. It’s how, for example, our grandparents traits are shuffled; we can have our maternal grandmother’s eyes but grandfather’s hair colour.

Cystic Fibrosis (CF)
An inherited condition in humans caused by a recessive genetic defect. CF is characterized by the build up of thick, sticky mucus that can damage many of the body’s organs. The disorders most common signs and symptoms include progressive damage to the respiratory system and chronic digestive problems.


The characteristic of an organism or cell having two complete sets of chromosomes in each cell. For example, humans have one set of chromosomes from dad and the other from mom, hence also have two alleles of each gene. Compare to: haploid.

DNA view
DNA stands for deoxyribonucleic acid. It is the molecule that contains the genetic instructions to construct and maintain a living organism.

DNA fingerprint view
A technique used for identification, for example in paternity tests or crime scene investigations. Relatively large amounts of DNA are isolated and cut by restriction enzymes. The lengths of the resulting DNA fragments are characteristic of each individual (see SNP). Note: this technique has been essentially replaced by other types of DNA profiling.

DNA methylation
A biochemical process involving the addition of a methyl group to the cytosine of DNA nucleotides. DNA methylation stably alters the expression of genes in cells.

DNA profiling
A technique used to identify a person based on their DNA. Fragments of the DNA are amplified using PCR and the lengths of the resulting DNA pieces are characteristic of each individual. Because of the PCR step, only very little amounts of DNA are needed for DNA profiling. Compare to: DNA fingerprint.

DNA polymerase
An enzyme that can make new DNA strands from an old strand/template. There are several DNA polymerases in our cells; and although they have slightly different functions, they all are involved in DNA replication.

DNA replication
The process of producing two identical replicas from one original DNA molecule. This biological process occurs in all living organisms and is the basis for biological inheritance.

Refers to the allele that is expressed when two different alleles are found together. For example, in the wet and dry alleles for ear wax consistency, wet is the dominant one. So when someone has one wet and dry allele, he has wet ear wax. Compare to: recessive.

Down Syndrome
Also called trisomy 21. A chromosome defect that is characterized by the presence of an extra copy of chromosome 21 in a patient’s cells. Down syndrome causes delayed mental and physical development and is associated with characteristic facial features.

Drug target
A key biological molecule that is specific to a disease. A successful drug will block or inhibit this molecule from promoting the disease process.


Multicellular animal or plant before it is fully formed and capable of independent life. It develops into a free-living miniature adult or larva, in animals, or germinates into a seedling, in plants.

Enzyme view
A biological catalyst: a protein that can speed up chemical reactions without getting chemically changed itself. Human saliva contains an enzyme called amylase that speeds up the chemical reaction of converting starches in our food to sugars.

The study of the incidence and distribution of diseases, and of their control and prevention.

Processes by which modifications in a gene function that can be inherited by a cell’s progeny occur without a change in the DNA nucleotide sequence. Such modifications include DNA methylation, heterochromatic formation, genomic imprinting and X-chromosome inactivation.

The study of the complete set of epigenetic modifications on the genetic material of a cell, known as the epigenome.

The phenomenon that genes can interact with each other. A gene is epistatic when it changes the effect another gene conveys on the organism.

An organism that consists of a cell or cells that have membrane-bound organelles. One of these organelles is the nucleus in which DNA is stored. Compare to prokaryote.

Exome sequencing
Exome sequencing (also known as Whole Exome Sequencing or WES) is a technique for sequencing all the protein-coding genes in a genome (known as the exome). The exome comprises about 1% of the genome and is, so far, the component most likely to include interpretable mutations that result in clinical phenotypes.

Exon view
The region of RNA that is translated into protein. In eukaryotes, the primary RNA usually contains several exons that are separated by introns. Before the RNA is translated, the introns are removed and only exons remain. Compare to: intron.

Expressivity (Variable expressivity)
The process of the same mutation leading to different disease manifestations. For example, the same mutations in a breast cancer gene (BRCA1) can lead to breast or ovarian cancer.


Fetal Ultrasound Markers
A variation of normal fetal anatomy detected on ultrasound. Soft markers are not abnormalities and are seen in healthy, normal pregnancies but when a soft marker is seen, it increases the risk that there is a chromosome problem in the baby. For example, extra fluid behind a baby’s neck (called ‘nuchal translucency’) can be seen in healthy, unaffected babies but is more common in babies with a chromosome problem, such as Down syndrome.


A haploid reproductive cell produced by meiosis that then fuses with another of opposite sex or mating type to produce a diploid zygote.

Gel electrophoresis
A technique to separate biological molecules such as DNA or protein based on their size. An electrical gradient is applied to a semi-solid matrix (the gel) and molecules begin to migrate based on their electrical charge. Because of their smaller size, short pieces of DNA or protein travel through the gel faster.

Gene view
The fundamental unit of inheritance. Genes encode messages for the synthesis of proteins and functional RNAs. Genes help determine an organism’s appearance, its metabolism and may interact with the environment to influence its behaviour.

Gene editing
Is a type of genetic engineering in which DNA is inserted, replaced, or removed from a genome using artificially engineered nucleases, or “molecular scissors.

Gene expression
The “switching on” and transcription of a gene into RNA. Sometimes this RNA can be functional on its own but usually it’s converted into a protein. Either way, the gene’s information is out there to impact the individual’s phenotype.

Gene family
A set of genes similar in DNA sequence. Their similarity is presumably due to their evolution from a single ancestral gene that duplicated. Although these gene products gained or lost functions over time and became slightly different from their common ancestor, remnants of the ancestral gene are still present in all family members.

Gene knockout
The intentional removal or disruption of function of a gene from an organism’s DNA. For example, a p53 knockout mouse lacks the gene encoding for the p53 protein. Knockout mice are often used to study the function of the knocked-out gene by noting what differences are observed in the mutated mouse relative to a normal mouse.

Gene therapy view
The process of replacing ‘faulty’ genes involved in inherited diseases with ‘corrected’ versions. For example, Glybera is gene therapy designed to restore the enzymatic activity of lipoprotein lipase, a protein required to enable the metabolism of fat from fat carrying particles made in the intestine following a meal.

Genetic counselor
Health professionals that provide information and support to families at risk for or affected by a genetic condition. Genetic counselors translate complex genetic information into everyday language to help people make informed decisions about the issue at hand. They strive to discuss information and present options in a non-biased way to encourage patients to make decisions fitting with their own personal values and beliefs.

Genetic engineering
The direct manipulation of an organism’s DNA; in contrast to traditional breeding, where the DNA is manipulated indirectly. Many different techniques are used in genetic engineering, including the examples of gene knockouts and transgenic organisms.

Genetic Marker
A segment of DNA that can be tracked from one generation to the next. Markers can be entire genes or a single letter of code (see polymorphism).

Genetic testing
Using tests to diagnose or determine the predisposition to a genetic disease. The type of test can vary and includes tests directly on DNA, as well as biochemical tests that analyze proteins or metabolites linked to genetic diseases. The tests can also be used to prove paternity.

Genetically Modified Organism (GMO)
Organisms that have had their DNA altered by genetic engineering. When scientists generate GMOs, they combine existing pieces of DNA in new ways to give an organism new characteristics.

A genome is an organism’s complete set of DNA – basically a blueprint for an organism’s structure and function.

Genomics is the science that aims to decipher and understand the entire genetic information of an organism (ie: plants, animals, humans, viruses and microorganisms) encoded in DNA and corresponding complements such as RNA, proteins and metabolites. Broadly speaking, this definition includes related disciplines such as bioinformatics, epigenomics, metabolomics, nutrigenomics, pharmacogenomics, proteomics and transcriptomics.

Genomic imprinting
When the expression of the maternally derived or the paternally derived allele of a gene is supressed in the embryo. Gene inactivation is correlated with increased DNA methylation of the gene.

The specific set of alleles contained in the DNA of an organism. The genotype, as well as environmental and epigenetic factors, determine the final traits. Compare: phenotype

The group or line of cells that gives rise to reproductive cells (sperm or eggs). Mutations in the germline are passed on to future generations. Cells that are not part of the germline are called somatic cells.


Haploid view
The characteristic of an organism or cell having only one set of chromosomes and therefore only one allele of each gene. Human sperm and egg cells, for example, are haploid. When they combine during fertilization, they form a diploid (containing two sets of chromosomes) embryo. Compare to: diploid.

Is an expression of how much of the variation in a trait in a population is due to genes as compared to how much is due to environment. If a trait has a high heritability it generally means that genetic factors strongly influence the amount of variation.

An individual having two different alleles of the same gene. Cystic Fibrosis (CF) is an example of an inherited condition in humans caused by a recessive genetic defect. The parents of an individual with CF carry one disease allele (recessive) and one functional allele (dominant). Hence the parents are heterozygous for the trait manifesting in CF. Compare to: homozygous.

Densely coiled chromatin that appears in or along chromosomes.

A group of structural proteins that act as spools around which DNA winds.

Describes the microscopic examination of changes in tissue anatomy caused by disease processes.

From “Homology”: the characteristic of genes or organisms being similar due to a shared ancestry. Homology can be subdivided into orthology and parology.

An individual having two identical alleles of a particular gene. Albinism is a common example a recessive trait in which there is an absence of pigmentation in animals that are normally pigmented. Recessive traits only appear if an individual is homozygous for the corresponding gene. Compare to: heterozygous.

Hot spot
A sequence with a very high frequency of recombination (recombination hotspot) or mutation (mutation hot spot).

Housekeeping gene
A gene whose product is essential for most cells. For example, anything needed for RNA transcription, DNA replication or metabolic processes.

Human genome project view
An international effort to map and sequence all human genes. The project first began in 1990 and was declared completed in 2003, although work continues on certain aspects. The motivation behind the project was that sequencing and identifying all human genes would help us to better understand the genetic roots of disease and find ways to diagnose, treat and perhaps prevent many diseases.

Huntington’s disease view
An inherited brain disorder where there is a gradual loss of brain cells that causes symptoms like movement and walking problems, personality changes and cognitive impairment. It is inherited in a dominant pattern which means that an individual who has Huntington’s Disease has a 50% (1/2) chance of passing the faulty gene to their child.


In vitro
Biological processes and reactions occurring in either (i) cells or tissues grown in culture or (ii) cell extracts or synthetic mixtures of cells components. Compare to: in vivo

In Vitro Fertilization (IVF)
A reproductive technology where sperm fertilize the egg in a laboratory dish and the fertilized eggs are put into a uterus for pregnancy to be established.

In vivo
A process occurring in a living organism. Compare to: in vitro.

The number of new cases of a condition that occur over a defined period of time. For example, the incidence of the birth defect ‘club foot’ is about 1 in 1000 live births. Compare to: prevalence.

Passed down from parents to offspring through generations. The genes present in the parents are passed down to their offspring through egg or sperm cells. Traits may be inherited in different patterns such as x-linked inheritance, autosomal recessive or autosomal dominant inheritance.

Innate immunity
The basic resistance to disease or the first line of defence against infections. It is non-specific and doesn’t depend on previous exposure. Our skin is an important part and skin’s physical barrier and low pH inhibits microbial growth. Our body temperature can also be involved by inhibiting the growth of invaders and a fever will kill even more microorganisms.

Intracytoplasmic Sperm Injection (ICSI) view
Intracytoplasmic sperm injection (ICSI) is a type of assisted reproductive technology (ART) that involves injecting a single sperm directly into the cytoplasm of the egg. This technique is often used to help overcome male infertility, in particular when the man has slow-moving, abnormally formed or low levels of sperm.

An area of DNA that is transcribed into RNA but does not code for a protein. Not all parts of RNA leave the nucleus and introns are the fragments that are cut out.


Junk DNA
An older (and now rarely used) term referring to noncoding DNA. These DNA segments were thought to be useless because their function was unknown however we are now beginning to understand that most of our ‘junk’ DNA is actually an important and crucial part of our genetic make-up.


Karyotype view
The characteristic set of chromosomes for a particular species. Chromosome number, shape and size all determine the species’ karyotype. For example, humans have 46 chromosomes: two pairs each of chromosomes 1-22 and a pair of sex chromosomes.

A region at the centromere of a chromosome to which microtubules attach during meiosis or mitosis. See: spindle.



The tendency of two or more genes on the same chromosome to be inherited together. The closer two genes are on a chromosome, the more likely it is that they will be inherited together.

A diverse class of compounds found in all living cells whose main biological functions include storing energy, cellular signalling, and acting as structural components of cellular membranes.

An assembly of both proteins and lipids that functions to transport water insoluble fats throughout the vascular and lymphatic systems.

Lipoprotein Lipase (LPL)
An enzyme that plays a critical role in transporting fats and breaking down fat carrying molecules called lipoproteins.


General term for protein, nucleic acid or polysaccharide or other very large polymeric organic molecule. alt. macromolecular.

Meiosis view
Cell division that results in cells that have half of the chromosomes of the original parent cell. Meiosis is the mechanism by which gametes are produced. Compare to: mitosis.

Mendel, Gregor
A monk who lived from 1822-1884 and developed the first understanding of the basics of inheritance in sexually reproducing organisms by conducting crossing experiments on pea plants. He provided a collection of experimental observations that were translated into generally applicable rules describing how some traits are transferred between generations.

Mendelian inheritance
A set of principles of inheritance derived from the work of Gregor Mendel. In short, these principles state that alleles separate into gametes such that each gamete contains only a single copy of a gene (segregation). Furthermore, the alleles of different genes separate into gametes independently and do not sort based on the inheritance of other genes (independent assortment).

Messenger RNA (mRNA) view
An RNA molecule which carries the message that acts as a template for translation into protein.

The complete set of chemical reactions that happen in an organism. Includes the conversion of food into energy, production of components for new cells and maintenance of existing cells.

Any chemical compound involved in or a product of metabolism.

The study of the set of metabolites present within an organism, cell, or tissue.

The migration of cancer cells to colonize tissues and organs other than those in which they originated.

Microarray (DNA) view
A slide or membrane with small bits of DNA of known sequence fixed to it. Allows detection of genetic sequences by complementary binding of unknown DNA samples that are being tested.

A microscopic organism; a micro-organism. Includes bacteria, some fungi, protozoa and viruses.

Any of various microscopic organisms, esp. a bacterium or virus

Are fine hollow protein tubes involved in the intracellular transport of materials and movement of organelles. Microtubules also form the mitotic and meiotic spindles.

Mitochondria view
An Organelle found in the cytoplasm of most eukaryotic cells and responsible for generating the energy for the cell.

Mitochondrial DNA (mtDNA)
A circular DNA molecule found inside each eukaryotic mitochondrion. Codes for most of the proteins needed by the mitochondrion.

Mitosis view
Cell division that produces two daughter cells with chromosomes, and therefore DNA that is identical to the parent cell. Mitosis is the mechanism by which somatic cells are produced. Compare: meiosis.

Molecular chaperones
Proteins that assist in the correct folding or transport of other proteins. This helps to make sure proteins and macro molecular structures are assembled properly and in the right place so they are useful to the cell.

Monosomy view
The condition of missing one chromosome of a pair. In humans, this is usually lethal except in Turner’s syndrome where women have one X chromosome instead of the usual two X chromosomes. (Occasionally also used to refer to missing a part of a chromosome.)

An individual or tissue containing at least two cell lines that differ genetically but that have been derived from the same fertilized egg. Compare: chimera

Mouse model
A system that uses mice as the experimental organisms to answer a question about biology. Mice are used because their genomes have been well studied. There are currently many mouse models available for research that mimic human diseases like obesity, cancer and neurological conditions like Huntington’s disease.

Refers to a biological or physiological observation that is attributable to many factors. For example, some traits are determined by the interplay between genes and environment. Most common traits like skin colour and height are multifactorial. Although your genes give a rough estimate of your height, environment can also impact your height because if you don’t have adequate nutrition during childhood, you will likely not reach your height potential.

A change in the DNA sequence of an organism that can have no effect, or be either beneficial or harmful.


Localized and premature death of cells in an organ or tissue due to disease or injury. Compare to: apoptosis.

Nucleic Acid
A large organic molecule made up of a chain of nucleotides. Examples include DNA and RNA.

Organic compound made up of a purine or pyrimidine (base) joined to a sugar. Nucleosides are structurally very similar to nucleotides, but, unlike them, they do not contain any phosphate groups.

A basic unit of DNA packaging in eukaryotes, consisting of a segment of DNA wound around eight histone protein cores. This structure is often compared to thread wrapped around a spool.

Organic compound made up of a purine or pyrimidine (base) joined to a sugar and a phosphate group. Nucleic acids (DNA & RNA) contain nucleotides linked together in long chains. Compare to: nucleoside.

A membrane-bound organelle containing the genetic material of a eukaryotic cell.

The study of the interaction between diet, genes and environment and how they affect human health.


A short fragment of single-stranded DNA or RNA that is typically 5-50 nucleotides long. Oligonucleotides can be primers to start PCR and also the fixed target in DNA microarrays.

A gene that, when mutated, can promote growth beyond the cell’s normal needs, thus leading to tumours. For example, a growth factor gene that is always expressed, even when there is no signal for growth, can cause a cell to grow beyond its normal limits. Compare: tumour suppressor.

Open Neural Tube Defect (ONTD)
A birth defect characterized by incomplete development of the spinal cord or the brain. The most common ONTD is Spina Bifida, a condition where the vertebrae do not fully enclose the spinal cord.

Operon view
A segment of DNA containing linked genes that function in a coordinated manner, usually under the control of a single promoter.

A sub-cellular structure in eukaryotic cells with specialized function. These membrane-bound compartments are sometimes compared to organs in the human body where each system has a different job. Examples include mitochondria, Golgi complex, endoplasmic reticulum, lysosome, peroxisome and the nucleus.

An individual animal, plant, or single-celled life form.

Equivalent genes in different species that are homologous because they have both evolved in a direct line from a common ancestral gene.


An organism that lives in or on another organism (its host) and benefits by deriving nutrients at the host’s expense.

An agent causing disease.

Describes the biological mechanism(s) and pathways that lead to a diseased state, including entry of the virus into the body, multiplication and spread, and triggering an immune response.

The study of diseases and their causes, processes, development and consequences.

Two homologous genes in the same or different genomes that are similar because they derive from a gene duplication.

The proportion of individuals carrying a particular genotype that express the associated phenotype. Important for genetic diseases because complete penetrance means that 100% of people with the disease mutation will have the associated phenotype.

Peptide bond
A covalent bond joining the alpha-amino group of one amino acid to the carboxyl group of another with the loss of a water molecule. It is the bond linking amino acids together in a protein chain.

Personal Protective Equipment (PPE)
Items, such as gloves or face masks, worn to provide a barrier to help prevent potential exposure to infectious diseases.

Phagocytosis view
The process of a cell engulfing and eating particles or other cells.

A branch of pharmacology concerned with using DNA and amino acid sequence data to inform drug development and testing. An important application of pharmacogenomics is correlating individual genetic variation with drug responses.

The study of the action of drugs and other biologically active chemicals.

Phenotype view
The set of observable characteristics of an organism that are the result of its genotype and the environment.

Polygenic traits are affected by more than one gene. Phenotype variation in some traits is due to the interaction of many genes, each with a small additive effect on the character in question. For example, it is currently believed that there are at least 11 genes involved in the determination of skin colour.

Polymerase Chain Reaction (PCR)
A technique for selectively and rapidly replicating a particular stretch of DNA in vitro to produce a large amount of that particular sequence.

Literally: occurrence of different forms. This can mean different things depending on the field of study.
(Genetics) presence of variation in DNA sequence. For example: see Single Nucleotide Polymorphsim.
(General Biology) presence of individuals with different phenotypes in a colony, population or species.

A diverse class of high-molecular-weight carbohydrates formed by the covalent linking together of monosaccharides into linear or branched chains.

Preimplantation Genetic Diagnosis (PGD)
A technology that allows embryos created by in vitro fertilization to be tested for a genetic condition before transferring them to a uterus. PGD is an option for couples who are at risk of passing on a genetic condition. Once the embryo has grown to the 8-16 cell stage, one cell is removed and genetic testing is done. Only those embryos that are not affected with the genetic condition tested for are implanted.

The total number of existing cases of a disease or condition in a population at a specific point in time. For example, the World Health Organization estimates that over 177 million people have diabetes. Compare to: incidence.

A short nucleic acid chain that serves as a starting point for the copying of DNA (DNA replication). This short stretch of DNA or RNA is complementary to part of the DNA that is about to be copied, and binds to it to allow attachment of the other machinery needed (e.g. DNA polymerase) to copy the DNA.

An organism that consists of cells which do not have membrane-bound organelles. Most prokaryotes are single-celled organisms. Importantly, the DNA of prokaryotes is found loose in the cell rather than in a nucleus. Compare to eukaryote.

A region of DNA located at the beginning (5’ end) of a gene. It contains sequences important in starting transcription. Mutations in the promoter region may cause incorrect expression of the gene and can lead to disease.

Large organic molecule made up of various combinations of amino acids. Proteins support living organisms’ shape and structure; carry messages within cells and between them; and as enzymes they regulate the chemical processes that sustain life.

Protein Synthesis
The process of building proteins by reading messages carried on mRNA and converting them to chains of amino acids using ribosomes and transfer RNA (tRNA).

The science that studies which proteins of the genome are expressed and when. Initially aimed at cataloguing the proteins present in a cell under various conditions, proteomics has joined up with genomics to try to understand how the expression of the genome enables all the complex functions of the cell to work.

Punnet Square view
A Punnett Square is a diagram that illustrates the possible genotype combinations from a mating as determined by Mendelian Inheritance rules.


A heritable characteristic controlled by genes that is expressed in offspring only when inherited from both parents (ie. Homozygous recessive).

Recombination view
Reorganization, shuffling or other moving of genetic material from one place on the chromosome to another, or to a different chromosome. The most common example is crossing over.

Restriction Fragment Length Polymorphism (RFLP)
A size difference (length polymorphism) among fragments after DNA has been cut with restriction enzymes. Each cut piece is a restriction fragment and each fragment size is affected by DNA sequence. For example, if a target sequence is present, the restriction enzyme will cut the DNA molecule; if a target sequence is missing, the DNA won’t be cut and the fragment will consequently be longer. This characteristic has been important in creating lab tests for paternity and for DNA fingerprinting.

Ribonucleic Acid (RNA) view
A long nucleic acid molecule found in the nucleus and cytoplasm of a cell. Similar to DNA, RNA consists a sugar-phosphate backbone with nitrogenous bases. RNA differs from DNA by having a different sugar in its backbone (ribose instead of deoxyribose); having uracil as a base instead of thymine; and functioning as a single-stranded molecule instead of a double-stranded helix. One function of RNA is to convey genetic information, encoded by DNA, to the protein synthesis machinery. This process is known as translation and involves three types of RNA that work together to achieve this task: mRNA, rRNA and tRNA.

Ribosomal RNA (rRNA)
The RNA component of the ribosome. It works together with mRNA, tRNA and amino acids during translation.

A complex of proteins and rRNA that converts information from mRNA into an amino acid chain. In other words: it translates the mRNA sequence into a protein.

The probability of a negative event occurring. For example, women have a 12% risk of developing breast cancer over their lifetime. The perception of risk can vary between different people. With our example, some people might think 12% is a low risk where as others might think it is a high risk.

RNA polymerase
The enzyme which transcribes DNA into RNA.

R0  (R-Naught)
A term used to describe how contagious an infectious disease is by representing the average number of people infected by one infectious individual.


Having an intermediate phenotype in an individual that has a heterozygous genotype for a particular trait. For example, degree of hair curliness is semidominant: if “A” represents curly hair, and “a” represents straight hair, an individual who has an “Aa” genotype would have wavy (i.e. not curly but not straight, rather intermediate) hair.

Reading of the components of a molecular chain of building blocks. For example, determining the order of nucleotides in a DNA or RNA chain or the amino acids within a protein.

The study of serum and other body fluids, and usually refers to the diagnostic identification of antibodies in the serum. For example, serology can be used to see if a patient has developed antibodies in response to an infection.

Sex-linked traits view
The tendency of certain characteristics to appear in one sex. Traits encoded by genes on one of the sex chromosomes (X or Y chromosomes in humans) can be expressed differently in males and females because males have an X and a Y chromosome, whereas females have two X chromosomes.

Side chain
In an amino acid, that part not involved in forming the peptide bond. The side chain gives each amino acid its characteristic chemical and physical properties.

Single Nucleotide Polymorphism (SNP)
A variation in a single base (A, T, C or G) within a sequence of DNA. For any single base variation to be called a SNP the minor allele must be found in more than 1% of the population. So far more than 6 million SNPs have been discovered in the human genome. SNPs do not generally cause disease directly but some SNPs may indicate an individual’s susceptibility to disease or the response to drugs and other treatments.

Somatic Cell Nuclear Transfer (SCNT)
A laboratory method for creating clones of animals. SCNT requires 2 donors: a nucleus and an egg. The egg is stripped of its nucleus and the donor nucleus is placed inside. Because the donor nucleus is diploid, whereas normal egg cells are haploid, the egg is “tricked” into behaving as if it were fertilized. This leads the egg to divide and differentiate, resulting in an embryo that will develop into a copy (clone) of the organism that donated the nucleus.

Somatic Cells
The cells that form the body only. Unlike in germ cells, mutations or manipulations in these cells are not passed on to the next generation.

Spina Bifida
A condition where the bones of the spine (vertebrae) do not close properly around the spinal cord so part of the spinal cord is exposed and nerve damage occurs. The extent of damage depends on the size and location of the vertebrae gap. Spina bifida can occur alone or as part of a syndrome with other multiple birth defects. The exact cause of spina bifida is unknown. However, it is thought that both environmental and genetic factors play a role (multifactorial inheritance).

The structure formed by microtubules stretching between opposite sides of the cell during mitosis or meiosis and which guides the movement of chromosomes.

Rare or unpredictable. In genetics, specifically means that it is not known to be inherited. For example, if one person in a family had a genetic condition that was not found in any other family members, they may be referred to as having a sporadic case of that condition.

Stem Cell
A cell that has the ability to self-renew or divide indefinitely. Stem cells can also develop into other specialized cell types. There are several classifications: totipotent, pluripotent, and multipotent.


A region of repetitive DNA at the end of a linear chromosome that serves to protect the end from deterioration or destruction. In somatic cells, with each round of cell division, telomeres get shorter and once they become too short to protect the ends of the chromosomes, cell division may be prevented, or cells may die.

A substance or exposure that causes birth defects. Many drugs, infections, chemicals and radiation can be teratogens.

A characteristic that an individual possesses. It could be a personality or behavior trait (like being warm and friendly), intelligence (a high IQ score) or a physical feature (like red hair or height). Genes may or may not have a determining role in a trait.

The RNA that is synthesized by RNA polymerase on a DNA or RNA template.

The enzymatic process where complementary RNA sequences are created from DNA templates.

The complete set of RNA transcripts produced by the genome at any given time.

Transfer RNA (tRNA)
RNA responsible for bringing amino acids to the ribosome and working with the mRNA and rRNA to make an amino acid chain. tRNA transfers the amino acid to the growing protein chain during translation. Each tRNA molecule is specific to a certain amino acid.

Having a piece of DNA that originally stems from a different species. Transgenic organisms are a subset of Genetically Modified Organisms (GMOs).

The process of producing proteins from the information stored on an mRNA molecule. In other words it is the process of translating from the language of nucleotides to the language of proteins.

The transfer of part of a chromosome onto another nonhomologous chromosome. Translocations may be balanced (having the right amount of chromosome material) or unbalanced (having too much or too little chromosome material). A reciprocal translocation is where two nonhomologous chromosomes exchange material.

A segment of DNA that can remove itself from a chromosome and insert itself somewhere else in the genome, i.e. it can ‘jump’ from one place in the genome to another. Transposons can also move between organisms. They play a role in the transfer of antibiotic resistance among bacteria and can cause disease by creating mutations.

Triplet repeat expansion
Triplet repeats are 3 nucleotides that are repeated a number of times (e.g., TACTACTACTACTAC). Triplet repeat expansion is when extra repeats are added (e.g., more TACs). If this large repeat is within a gene, it can cause disease (e.g. Huntington’s disease).

The occurrence of an extra chromosome (ie: third copy of a particular chromosome) in the total chromosome count of an individual. People typically have two copies (disomy) of all of their chromosomes. Often, having trisomy of a full chromosome is not compatible with life except for an additional chromosome 21 (Down Syndrome) or extra sex chromosomes.

Trisomy 18 and Trisomy 13
Typically lethal conditions caused by an extra chromosome in each cell (chromosomes 18 and 13 respectively) and involving many birth defects.

Trisomy 21
Also known as Down syndrome. Caused by an extra chromosome 21 in each cell.

A growth resulting from the abnormal proliferation of cells. It may be self-limiting or non-invasive, when it is called a benign tumour. A malignant tumour or cancer is when a tumour proliferates indefinitely and invades underlying tissues and metastasizes.

Tumour Suppressor Gene
A normal gene that controls how often and how fast a cell divides. If both copies of a tumour suppressor gene are inactivated, the growth of the cell may go out of control and become a tumour.


A technology that uses sound waves to create a picture. An ultrasound technician (sonographer) uses a hand-held wand (transducer) to direct sound waves at the internal body part of interest. The reflection or return of these waves creates a black/white image. Fluid appears black, solid material like bone appears white and other tissues, like most organs, appear as shades of grey.

In female mammals, the organ in which the embryo develops and is nourished before birth. In other mammals, the uterus is an enlarged portion of the oviduct modified to serve as a place for development of young or of eggs.


Variable-Number Tandem Repeat (VNTR)
Catch-all term for repeats in the genome. Generally not associated with disease, these repeats are used in DNA profiling because the sequences vary in length between people. VNTR sounds complicated, but the phrase simply means, “repeats that vary in size”.

An intracellular obligate parasite that is unable to multiply or express its genes outside a host cell as it requires host cell enzymes to aid DNA replication, transcription and translation. Viruses cause many diseases of man, animals, plants and bacteria.


Whole-genome sequencing (WGS)
A comprehensive method for analyzing entire genomes. WGS can be used to better understand how a genome works. Comparing viral genome sequences from clinical samples can help identify the source of an infection by detecting small variations in the genomes. .


X chromosome view
One of the two sex chromosomes in humans. Women generally have two X chromosomes whereas men have one X chromosome and one Y chromosome.

X chromosome inactivation
The inactivation of all but one copy of the X chromosome in female mammals.


Y chromosome view
One of the two sex chromosomes in humans. Men generally have one X chromosome and one Y chromosome whereas women have two X chromosomes. The Y chromosome contains the genes that trigger male development and proper sperm formation.


A diploid cell that is the result of the fusion of a haploid egg and haploid sperm. The term zygote only applies before cell division starts (after which it is called an embryo).