DNA Sequencing

Good to Know

DNA Sequencing identifies how your nucleotides – the building blocks of DNA – are ordered in your genetic code. The sequence is then digitised and can be used to analyse your genetic makeup in various ways. For example, it can be used for:

- Diagnosing genetic conditions
- Determining your genetic predisposition to diseases or traits
- Charting your genetic ancestry or finding living relatives
- Proving or disproving familial relationships

Although these analyses are traditionally undertaken using other methods (e.g. microarray technology, STR analysis), it is thought that DNA sequencing will become the preferred method as it continues to drop in price.

What can I do with my DNA Sequence?
There are several online tools available to help you analyse your DNA sequence for health purposes and genetic genealogy. These tools include:

- Promethease
- GET-Evidence
- Ingenuity Variant Analysis
- GedMatch

What file format will my DNA Sequence come in?
The digital outputs of DNA sequencing are commonly BAM and VCF files, which are manipulated using certain pieces of software.

What else should I be aware of?
There are dozens of technical factors to consider when purchasing your DNA sequence, a few of these include:

Prices and run times may depend on the number of base pairs (a pair of nucleotides) read at a time, and whether those reads are single-end or paired-end.

This refers to the number of times each nucleotide is read during the sequencing process. 30-50x is commonly cited as the minimum coverage required for sequencing of acceptable accuracy.