What is Whole Genome Sequencing? | DNA Sequencing Guide and Overview
January 16, 2019

What is Whole Genome Sequencing?

What is Whole Genome Sequencing? | DNA Sequencing Guide and Overview

Whole genome sequencing, also known as WGS, is a laboratory technique in which the entire coding (exon) and non-coding regions of the genome are obtained. It provides a complete, comprehensive map of a person’s genetic makeup and allows extensive analysis of all genes to be performed. It's a single lab test that obtains all of the data on all of your genes.

How is Whole Genome Sequencing Done?

During this technique, a DNA sample is collected from a person. The sample contains chromosomal DNA as well as DNA contained in the mitochondria.  The DNA is then broken into smaller fragments, and making use of new technologies that allow for quick sequencing, the combination of nucleotides (A, T, C, and G bases) are analyzed.

Once the DNA is sequenced, it is then put back together in the correct order using bioinformatics approaches. This step is referred to as "assembly." When the genome assembly is completed, researchers, physicians, and citizen scientists can conduct further analysis such as determining whether genetic variations are associated with health conditions.

There are several methods of DNA sequencing available. Whole genome sequencing and whole exome sequencing are the two methods most used in healthcare and research to identify genetic variations. However, whole genome sequencing should not be confused with whole exome sequencing because whole exome sequencing only analyzes less than 1% of the genome.

Both approaches can use third-generation or second-generation sequencing technologies. SMRT sequencing, Illumina dye sequencing, and pyrosequencing are examples of these technologies.  Other technologies developed recently use novel approaches. For example, in nanopore sequencing, a strand of DNA is passed through a protein nanopore offering real-time and direct DNA sequencing.

 

How Big is One Person's Whole Genome?

It's huge! A single genome contains around six billion letters.

When your genome is sequenced, it is stored as data files such as fastq, bam and vcf. The file containing a single person's whole genome can be more than 300 GB in size! That means one person's genome is larger than the entire hard drive of many computers!

This very large size usually means it is difficult to store your genome on your computer and instead most people need to store their genome in the cloud.

Sequencing.com is designed to provide just this: safe, confidential storage of your whole genome so you and your healthcare providers can always securely access and obtain value from it.

 

The Importance of Whole Genome Sequencing

The very first human genome sequencing was completed in 2003 as part of the international scientific research Human Genome Project. It cost $2.7 billion and took 15 years.

Today, it can be accomplished in as little as a few weeks and is increasingly priced at less than $1,000. As a result of this incredible price reduction, whole genome sequencing is becoming an affordable option for many people.  

This is important because whole genome sequencing is our most powerful tool for testing for genetic disorders such as mutations that drive cancer development, heart disease, medication reactions and even tracking infectious disease outbreaks.

As a result of this, the Food and Drug Administration (FDA) is laying the foundation for the use of whole-genome sequencing in public health by identifying the genomic sequence of pathogens associate in foodborne illness outbreaks.

Whole genome sequencing is also becoming particularly useful in creating personalized treatment plans for patients with cancer and some genetic conditions. It is also is starting to become the norm for citizen scientists and other consumers looking to learn a little bit more about their health.

In fact, using Sequencing.com, consumers who have had whole genome sequencing can upload their genome sequencing data, store it for free and then analyze their entire genome with apps from our DNA App Store.

 

Where to Buy Whole Genome Sequencing 

Dante Labs is our preferred provider of Whole Genome Sequencing services. You can purchase their services on Amazon or directly from their website.

 

Using Sequencing.com to Store, Analyze and Understand Your Genome

By using our apps with a whole genome sequence, consumers can learn about their health, nutrition, fitness, beauty, and ancestry in the most accurate way possible since all of their DNA is available for analysis.

If you have a whole genome sequence that you would like to analyze, it's easy to upload it and then use apps to help you outsmart your genes!

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