In our last article, we discussed our partner Dante Labs and their clinical-grade 30x whole genome sequencing (WGS) test. In this article we are going to dive deeper into the topic and discuss what 30x WGS means and why it's valuable.
But before we discuss 30x WGS, let’s take a step back and discuss what whole genome sequencing is and why it’s valuable.
About Whole Genome Sequencing
WGS is a laboratory technique in which the entire coding (exon) and non-coding (intron) regions of the genome are analyzed. It provides a comprehensive map of a person’s entire genetic makeup and allows extensive analysis of several genetic variants in a single method.
This method is in contrast to traditional consumer autosomal genetic tests which only look at specific genetic variants thereby resulting in only a small fraction of your genome is being sequenced.
The Value of Whole Genome Sequencing
WGS is our most powerful tool for testing for genetic disorders such as mutations that drive cancer development and tracking infectious disease outbreaks. But WGS can also be useful on an everyday basis because it is one of the critical steps in creating personalized health plans.
By understanding our genome in its entirety, we are in a better position to outsmart our genes. This is why high precision WGS tests, such as Dante Labs’ 30X WGS is important.
What is 30x Whole Genome Sequencing?
When sequencing your genome, there is an important concept known as coverage.
The concept of coverage is similar to megapixels in your camera. The more megapixels your camera has, the clearer the image. The same applies to genome sequencing. The higher the coverage, the better the data quality.
Coverage refers to the number of times the sequencing machine will sequence your genome. Because you have 6 billion letters in your genome, even if the sequencing machine was incredibly accurate 99.99% of the time, the 0.01% error rate means that your genome may have 60 million errors!
To significantly reduce the potential for errors, most sequencing services will sequence your genome many times! Each additional time further reduces the error rate, which means that the more times your genome is sequenced (ie the higher the coverage), the more accurate the data will be.
When you see genome sequencing being sold, 'x' marks the spot to look for! The number before the 'x' is the coverage (the average number of times your genome will be sequenced).
For example, when you get 30x WGS from Dante Labs, the '30x' means that your entire genome will be sequenced an average of 30 times!
Clinical-Grade Whole Genome Sequencing
When sequencing is 30x, this means it is clinical-grade. The term 'clinical-grade' indicates that the genome data is very reliable and, because of this, can be used for health-related purposes.
For example, your doctor may use the data from clinical-grade WGS to determine what diseases you are genetically predisposed to as well as which medications are best for you to take.
If you want your genome sequencing to be clinical-grade, make sure it's 30x.
What is 0.4x Whole Genome Sequencing?
As many people are purchasing 0.4x WGS from companies such as Nebula Genomic, we've started to receive a lot of questions about it. Sequencing.com's bioinformatics team has also spent a lot of time working with actual data from 0.4x sequencing and what they discovered is starling.
Let's first understand what 0.4x means. If genome sequenc ing is only 0.4x, this means that the entire genome is sequenced less than a single time. We discovered that when this occurs, the genome data from 0.4x WGS contains a lot of gaps. There's so much data missing, some people think that 0.4x isn't truly whole genome and is, instead, partial genome sequencing.
When our bioinformatics team analyzed the data that was provided by 0.4x genome sequencing, they found a large quantity of the data was extremely low quality. This means the much of the data obtained from 0.4x is simply not reliable.
A genome obtained using 0.4x WGS may be fun to play around with but the low quality means you may not want to use the data for making decisions about your health or wellness.
30x versus 0.4x Sequencing
The distinction between 30x and 0.4x sequencing is clear: 30x means the sequencing will be reliable, very high quality and can be used for health-related purposes. 0.4x, on the other hand, means the sequencing will not be trustworthy, will be low quality and can be used only as a toy.
30x WGS = clinical use
0.4x WGS = novelty use
Due to much higher quality and the ability to use the data for many different purposes, we recommend 30x WGS. 30x will allow you to use your genome to make better, smarter decisions regarding your health.
While the DNA apps at Sequencing.com can analyze any genome sequencing data, including both 0.4x and 30x, the results obtained by using DNA apps with genome data obtained from 30x sequencing will be more reliable.
Using Sequencing.com’s DNA App Store
In our DNA app store, there are nine categories of apps including health, ancestry, nutrition, fitness, beauty, lifestyle, children, bioinformatics, and clothing. While all of the apps within the store are a great fit, health apps like the Rare Disease Screen, Wellness & Longevity, and Genetic Counseling apps are an excellent starting place.
If you already have a whole genome sequence that you would like to analyze, register today and upload your data to start outsmarting your genes.
If you don’t have a WGS, visit Dante Labs and consider ordering a test for DNA Day this April 25th!