Acute myeloid leukemia
Acute Myeloid Leukemia (AML) is a type of cancer in which abnormal white blood cells (myeloblasts), red blood cells, or platelets are produced in the bone marrow.
An Allele is an alternate version of the same gene. Within the human population, for example, every individual has genes that determine their physical characteristics. Variations in these genes lead to variations in appearance.
Protein-coding genes contain regions of DNA called introns and exons. The exons code for a protein product, while the introns do not. Following transcription, the introns must be removed from the mRNA by a process called splicing. In the process, cells can also remove exons to create different combinations of exons in the spliced mRNA, leading to different protein products.
Amino acids are the building blocks that make up proteins. Each protein is coded by a protein-coding gene. When a gene (DNA) is transcribed into mRNA, the code is read in groups of three nucleotides, called a codon. Each codon codes for an amino acid. There are 20 different amino acids that make up the proteins in our bodies.
Apoptosis is programmed cell death. When triggered, a cell will undergo an orderly process in which the cellular contents are packaged and discarded. The immune system will then clear the cellular remnants.
A regulated process in the cell that removes unnecessary or dysfunctional components, breaking them down and reusing their building blocks.
A base pair is formed when two nucleotides, the building blocks of DNA, form bonds with each other to hold the two strands of the DNA double helix together. Base pairs form between complementary nucleotides: Adenine (A) forms base pairs with Thymine (T) and Uracil (U) and DNA and RNA, respectively, while Cytosine (C) forms base pairs with Guanine (G).
Bioinformatics is an interdisciplinary field that develops methods and software tools for understanding biological data, in particular when the data sets are large and complex.
In medicine, a biomarker is a measurable indicator of the severity or presence of some disease state. More generally a biomarker is anything that can be used as an indicator of a particular disease state or some other physiological state of an organism.
BRCA1 and BRCA2 are human genes that code for tumour suppressor proteins which help repair damaged DNA, helping to maintain the stability of each cell’s genetic material. When either of these genes is mutated, leading to a protein product that is either not made at all or does not function properly, the cell cannot repair DNA damage effectively. Cells with mutations in these genes are prone to genetic alterations that can lead to cancer.
The smallest structural and functional unit of an organism, typically microscopic and consisting of cytoplasm and a nucleus enclosed in a membrane.
A type of cancer treatment that uses one or more anti-cancer drug(s) to target and eliminate cancerous cells.
Once scientists have demonstrated the potential of a particular medical intervention in the laboratory setting, a clinical trial is done to find out whether these promising approaches to disease prevention, diagnosis and treatment are safe and effective when used on patients.
A gene that is similar across all members of a species, meaning that it has remained consistent throughout evolution of that species. This usually means that the gene is necessary for survival.
Copy number variation
De novo genome assembly
Building a contiguous genome sequence from multiple smaller DNA fragments assuming no prior knowledge of the source DNA sequence length, layout, or composition (e.g., without the use of a reference genome). De novo is Latin for “of new” or “from the beginning”.
Deoxyribonucelic acid (DNA)
A biological molecule that has been shown to be critical for development of a disease. Scientists aim to develop drugs that block this molecule in order to treat or prevent disease.
A protein that acts as a biological catalyst. Enzymes speed up biochemical reactions by converting one molecule, called a substrate, into a product. To date, there are approximately 75,000 different enzymes that catalyze reactions in the human body.
The complete set of epigenetic modifications in a cell, tissue, organisms or sample.
The study of the complete set of epigenetic modifications in an organism’s genome.
Formalin-fixed paraffin-embedded tissue
Formalin-fixed paraffin-embedded (FFPE) tissues have undergone a specific laboratory technique to preserve biospecimens for research or diagnostic purposes. Tissues are first fixed in formalin to preserve the structures and proteins present in the tissues, and then embedded in a paraffin wax block which can be sliced thinly and viewed under a microscope.
A potential artifact of next generation sequencing (NGS) that presents as uneven coverage of GC-rich or GC-poor sequencing content. Library amplification by PCR has been found to be a key factor in generating GC-bias.
A technique used to separate biological molecules, either nucleic acids or proteins, based on their size. Biomolecules are placed in a gel, which acts as a matrix through which the molecules must move upon application of an electrical charge. Smaller molecules will move more rapidly through the matrix while the movement of larger ones will be impaired.
When a gene is expressed, it is read by the cell through a process called transcription to produce an RNA molecule. If the gene codes for a protein, the RNA molecule will be translated to produce a protein product. Because not all gene products are required by every cell in an organism (e.g. brain cells do not require the same gene products as a stomach cell), gene expression can be turned on and off, or the level of gene expression can be regulated, through epigenetic processes.
An experimental laboratory technique in which a gene is intentionally removed, or “knocked out”, in order to study the function of that gene.
A health professional who provides information and counsel to individuals and families who carry genes responsible for genetic conditions or diseases.
A branch of biological science focused on understanding the sequence, structure, function and evolution of the genomes of organisms or populations of organisms. Fields that interface and are often included within the field of genomics include bioinformatics, epigenetics, epigenomics, metabolomics, proteomics and transcriptomics.
The process of determining differences in the genetic make-up of an individual by examining and comparing an individual’s DNA sequence to others at specific positions within the genome.
A subset of cells in an organism that give rise to reproductive (sperm or egg) cells. Mutations in the DNA of germline cells are therefore passed on to future generations. Non-germline cells are called somatic cells.
A genetic trait that can be inherited or passed on to future generations.
Immune checkpoint inhibitors
A type of cancer immunotherapy that targets key regulators of the immune system, helping it recognize and eliminate cancer cells.
A type of therapy that works by activating or suppressing the immune system.
Studies conducted using cells or biological molecules outside of their normal biological setting (e.g., outside of the organism or environment they came from) and instead in a laboratory setting (e.g., in a test tube) are said to be done in vitro.
A biological process or reaction occurring within a living organism.
A process that is performed on a computer or in a computer simulation.
A trait or gene that is passed down from parents to their offspring.
A type of cancer that begins with cells of the immune system, called lymphocytes.
Messenger RNA (mRNA)
All of the biochemical reactions that occur in an organism. These include reactions that breakdown food molecules and extract their energy, production of cellular components and maintaining existing cells and tissues.
A biochemical that is produced or used in the metabolism of an organism.
The study of all of the metabolites in an organism, cell or tissue.
The spread of cancer cells throughout the body.
A branch of science that specifically studies how the microbiome responds to the environment by assessing gene expression
A mitochondrion (plural mitochondria) is a membrane-bound organelle found in eukaryotic cells. Mitochondria are responsible for extracting energy stored in biomolecules through a process called cellular respiration. The extracted energy is stored in a molecule called ATP which can be used by the cell. Mitochondria contain mitochondrial DNA that encodes for rRNA, tRNA and proteins.
A change in the DNA sequence or a cell or organism.
Next generation sequencing (NGS)
DNA sequencing technologies that allow one to sequence multiple smaller fragments in parallel. Examples of NGS include short- and long-read sequencing.
A long biomolecule made up of a chain of nucleotides. DNA and RNA are nucleic acids.
The building blocks of nucleic acids (e.g., DNA and RNA). Nucleotides are composed of three types of molecules: a sugar, a phosphate and a base. The base differs between nucleotides and are called Adenine (A), Thymine (T), Cytosine (C), Guanine (G) and Uracil (U).
A membrane-bound compartment in a cell containing the genetic material.
A specialized subunit or compartment, found within a eukaryotic cell, that carries out a specific function.
The proportion of individuals carrying a particular genetic variant who display a particular trait. In cancer genetics, penetrance refers to the likelihood that a disease or condition will occur when a particular genetic variant is present.
The observable characteristics of an individual that result from their genotype.
A genetic mutation in which a single nucleotide is substituted for another.
Polymerase Chain Reaction (PCR)
A laboratory procedure that is used to amplify, or replicate, a specific region of DNA to produce many copies.
The presence of genetic variation for a particular gene in a population.
A region of DNA located just before the beginning of a gene. The promoter contains the DNA sequence that is required for the gene to be read (transcribed) and can be modified through epigenetics to regulate gene expression. Mutations in the promoter may cause dysregulation in gene expression and may lead to disease.
A type of cancer therapy that uses beams of intense energy (ionizing radiation) to eliminate cancer cells.
Ribonucleic acid (RNA)
RNA is a nucleic acid. Similar to DNA, it is composed of a long strand of nucleotides. RNA differs from DNA in the chemical structure of the nucleotide building blocks (DNA is made up of deoxyribonucleotides while RNA is made up of ribonucleotides). It also differs in function. While DNA carries the genetic information of the cell, RNA has various functions including production of a protein product through transcription and translation (mRNA), as a structural and functional component of ribosomes (rRNA) and a functional role in translation (tRNA).
Ribosomal RNA (rRNA)
RNA molecules that, along with ribosomal proteins, make up the structure and function of the ribosome.
Short Tandem Repeat (STR)
A repeating pattern of adjacent DNA segments 2 to 6 base pairs in length. Also referred to as a microsatellite.
Single Nucleotide Polymorphism (SNP)
A variation in a single base pair within a DNA sequence. SNPs (pronounced “snips”) can be used to determine an individual’s susceptibility to disease or to predict responses to drug treatments.
Cells in the body which can divide and give rise to different populations of cells with specialized functions.
Transfer RNA (tRNA)
Tumour suppressor gene
A type of gene that regulates cell division. When mutated, uncontrolled cell proliferation and cancer may occur.
An infectious agent that is unable to replicate independent of a host cell.
Whole exome sequencing
Whole genome sequencing
Whole genome shotgun
A DNA sequencing approach where multiple copies of a genome are randomly fragmented (similar to how a shotgun shell randomly breaks apart into smaller pieces after being fired), sequenced, and then the fragments are reassembled to form a contiguous DNA sequence by using the overlapping regions of the DNA fragments.