Genomics 101
An Introduction to Genetics
Genetics Terminology
DNA: DNA carries the genetic information essential for the grow and functioning of organisms. It is comprised of bases A, T, G, and C.
Chromosomes: comprised of tightly wound strands of DNA. Half of our chromosomes are inherited from each parent.
Gene: a section of DNA that codes for a specific protein.
Exon: part of a gene that is used to code for a protein, also known as ‘coding DNA.’
Intron: part of a gene that does not code for a protein, also called ‘non-coding DNA.’
RNA: Exons are transcribed into RNA, which is translated into amino acids that build proteins.
Protein: comprised of chains of amino acids. Different proteins have unique roles that allow the body to function.
Pathogenic variant: A change in the DNA sequence that affects the quantity or quality of protein produced by that gene.
What is a Genome?
A genome is all the genetic information in our bodies. This includes our exons or ‘coding’ DNA, which makes up 1% of our genome. The rest of our DNA is 'non-coding.' Non-coding DNA controls the expression of our genes, such as in which cells they are turned 'on' and 'off' and how much protein is needed in certain cells.
Watch this video by the Garvan Institute for more information
Genetic testing usually involves studying the code (sequence) of an individual gene. In contrast, genomic testing involves testing multiple genes at once. It might also include specific tests e.g., RNA sequencing which can provide information on how genes are expressed in certain cells.
Whole genome testing – looks at our entire genetic code – all the coding regions of all our genes and the non-coding regions between them.
What is the Difference between Genetic Testing and Genomic Testing?
Watch this video by the Garvan Institute for more information
Why is Genomic Research Done?
To gain a better understanding of how variations in a single gene affect the risk of developing disease.
To understand the potential interactive or additive effect of genetic variants in multiple genes.
To identify genetic variants which could be targeted by specific medical treatments or therapies (aka personalised or precision therapy).
To identify the genes which cause rare genetic conditions.
