A. One of the nucleotides that comprises DNA and RNA, of the purine class
an alternative form of a gene (one member of a pair) that is located at a specific position on a specific chromosome.
the monomeric unit of protein. There are 20 different amino acids.
refers to how well the test predicts the presence or absence of a particular DNA sequence, which could be a gene or a genetic change.
Association (genotype / phenotype)
the occurrence of a certain genotype in individuals with a specific trait, at a frequency higher than would be expected by random chance
A person who uses data algorithms and specialised software to analyse biological data, such as DNA or RNA sequences.
The use of algorithms and software to analyse biological data.
any organic molecule produced by a living organism
a person possessing a mutation associated with a disease or condition, who does not show symptoms but can pass it on to their children
the threadlike structure of DNA and associated proteins to keep the DNA strand tightly supercoiled. Transmits genetic information in cell division. Humans have 23 pairs of chromosomes (46 individuals), two of each numbered 1 to 22, then two sex chromosomes (XX in females and XY in males).
Doctors who have undergone speciality training in genetics after general professional training (such as paediatrics and oncology) and see referred patients for diagnosis, management, genetic testing and genetic counselling.
The medical specialty which provides a diagnostic service and "genetic counselling" for individuals or families with, or at risk of, conditions which may have a genetic basis.
The usefulness of the genomic test to the patient (i.e. to what extent does it influence the effectiveness of the proposed intervention or clinical decision making).
How well the genetic variant being analysed is related to the presence, absence, or risk of a specific disease.
DNA sequence that encodes functional RNA molecules; a gene
a three-nucleotide sequence in a gene that encodes an amino acid
C. One of the nucleotides that comprises DNA and RNA, of the pyrimidine class
the five carbon sugar backbone of DNA; it is a modified form of ribose lacking one oxygen
DNA or deoxyribonucleic acid
a polymer of nucleotides, of which there are four: A, C, G and T. The substance which encodes the information for which proteins are expressed, and when; and which is inherited by our children. Collectively referred to as the ‘genome’.
to store information in sequence, as in the DNA code
having an internal cause or origin
of, relating to, or developing from external influences
Part of the genome formed by exons, the sequences that when when transcribed, remain within the mature RNA after introns are removed by RNA splicing.
the coding DNA sequence of a gene, interrupted by introns. After introns are excised from the mRNA in post-translational processing, the exons are translated into protein
Expression (of genes)
the process by which genes encoded by DNA are read to produce RNA, which is then used to produce a protein in the sequence determined by the original DNA code
a span of DNA that is the basic unit of inheritance; encodes a protein and has surrounding sequence to regulate the expression of this protein
Healthcare professionals who have undergone speciality training to help individuals, couples and families understand and adapt to the medical, psychological, familial and reproductive implications of the genetic contribution to specific health conditions.
Pathologists who have undergone speciality training in genetics and genomics who provide specialist input to genomic tests including test selection, results and interpretation to aid in the diagnosis, management and treatment of patients with a genetic basis for their disease.
A type of medical test that identifies changes in chromosomes, genes, or proteins.
the study of single genes – their structure, function and involvement in heredity
the set of genes within an organism
The data produced from DNA sequencing of a genome. It can be compared with a reference genome.
Includes information about the interpretation of genomic data and the implications of these findings, as well as relevant non-genomic clinical information.
The medical discipline applying genomic information to clinical care
Whole genome sequencing and analysis available for research, screening, and diagnostic purposes.
Is the analysis of hundreds or even thousands of genes from a cell or tissue simultaneously using sophisticated computer-based algorithms.
The application of genome-based knowledge through the study of genes and other genetic information, their functions and inter-relationships for the benefit of human health.
the genetic characteristics of an organism
The reproductive cells in multicellular organisms.
G. One of the nucleotides that comprises DNA and RNA, of the purine class
consideration of the parts of something as interconnected, explicable only by reference to the whole
a non-coding DNA sequence between exons in a gene which are excised from the mRNA after transcription and before protein is translated
Massively Parallel Sequencing
or ‘next generation sequencing’; a range of technologies developed in the 1990s allowing simultaneous sequencing analysis of millions of DNA fragments in a specimen or organism
A set of data that describes and gives information about other data.
a change to the DNA sequence or chromosome causing damage to the cell or organism
DNA sequence that does not encode functional RNA molecules. About 80 to 90 per cent of a genome
One of the four biomolecules, made up of monomeric nucleotides and forming deoxyribonucleic acid (DNA) and ribonucleic acid (RNA)
the basic monomeric unit of nucleic acids (DNA or RNA), called ‘bases’: adenine (A), guanine (G), thymine (T) cytosine (C). RNA has uracil (U) in place of thymine (T)
'omics is a suffix that refers to the analysis of all the molecules of one type in a cell or tissue. For example, genomics (investigation of all the DNA molecules in a cell), transcriptomics (all RNA molecules), proteomics (all proteins).
The study of how the actions of, and reactions to, medicines vary with the patient's genes.
observable characteristics of an organism
pertaining to or determined by several different genes
Polymorphism (or SNP, see below)
a change to the DNA sequence that does not have a harmful effect on the cell or organism
Precision (of tests)
the degree of similarity between the results of repeat tests on the same sample
a latent susceptibility to a phenotype that may be activated under certain conditions
a person who has a mutation for a condition which has onset later in life
investigators design the study, recruit subjects and collect baseline data before intervention (eg genomic testing) is started, then follows patients through the course of the study (compare to retrospective study)
Replication (of DNA)
when DNA is copied before a cell divides to produce an identical copy of the first
investigators design the study, select subjects for collection and interrogation of data from the past (compare to prospective study).
Ribonucleic Acid: a nucleic acid present in all living cells. Its principal role is to act as a messenger carrying instructions from DNA to initiate and control the synthesis of proteins, although in some viruses RNA rather than DNA carries the genetic information.
a reproductive advantage of an organism in their environment, caused by random beneficial genetic changes
Sensitivity (of tests)
the detection limit of the test
SNP (or single nucleotide polymorphism)
a change to the DNA sequence that does not have harmful effect on the cell or organism
All body cells of an organism – apart from the sperm and egg cells, the cells from which they arise (gametocytes) and undifferentiated stem cells – are somatic cells. Examples of somatic cells are cells of internal organs, skin, bones, blood and connective tissues. In comparison, the somatic cells contain a full set of chromosomes whereas the reproductive cells contain only half.
Specificity (of tests)
the degree to which the test measures the analyte of interest, and is not confounded by other chemicals in the sample
Process by which the DNA of an organism is cut and a gene, perhaps from another organism, is inserted.
a person showing signs of a particular disease or condition
relating to a system, as opposed to a particular part
T. One of the nucleotides that comprises DNA and RNA, of the pyrimidine class
Transcription (of DNA)
when the DNA molecule is ‘read’ by specialised enzymes to produce RNA molecules
The sum total of all the messenger RNA molecules expressed from the genes of an organism.
the process by which RNA molecules are ‘read’ by specialised enzymes to determine the sequence of amino acids linked into proteins
Whole Exome Sequencing (WES)
the simultaneous sequencing and analysis of the entire coding / exonic sequence of a specimen or organism
Whole Genome Sequencing (WGS)
the simultaneous sequencing and analysis of the entire genome sequence of a specimen or organism