What is DNA Sequencing?
Deoxyribonucleic acid (DNA) consists of a backbone of sugar deoxyribose and phosphate groups, with nitrogenous bases attached known as cytosine (C), thymine (T), adenine (A), and guanine (G). The arrangement of these bases forms the genetic code that we inherited from our parents to make us who we are. DNA sequencing is the process of reading this code to see if it is giving our cells the right instructions and in the case it is not, the alterations (mutations) in the code can be pinpointed for personalized treatment.
Whole Genome Sequencing
The genome consists of all 3.2 billion base pairs and contains: The parts that code for proteins (exomes), the parts that do not code for proteins (introns) and the part encoding mitochondria, known as mitochondrial DNA (mtDNA). Whole genome sequencing (WGS) gives a comprehensive overview of the complete genetic code and allows visualization of certain types of mutations (large rearrangements, copy number variation (CNVs) (large deletions/duplications), and mtDNA mutations) that are usually missed in exome sequencing. WGS also allows us to see changes in non-coding DNA that have also been found to play a part in certain pathogenic phenotypes.
Whole Exome Sequencing
Whole exome sequencing (WES) entails analysis of only the protein-coding part of the genetic code, i.e. 2% of the genome. This is often sufficient in the search for commonly disease-associated mutations, when the effect on protein function is known.
Targeted Sequencing
Sequencing at an even deeper level than WGS and WES is targeted sequencing. This type of sequencing looks at selected specific regions within the exome and is particularly helpful in identifying mutations within select genes.
Accepted Sample Types at BioAro
Clients can have full confidence in the quality of the instruments utilized for sequencing at BioAro. They are manufactured at an FDA-registered and ISO 13485-certified facility, to ensure that the highest of standards are followed.