(lively music)
- Hello my name is Paul Cherng, Product Manager at Illumina,
and today I'm going to walk you through how to design
a custom panel using DesignStudio and the AmpliSeq
for Illumina solution, a streamlined workflow
to perform targeted next-generation sequencing studies.
Let's get started.
The first step is designing your custom panel
using DesignStudio.
DesignStudio is a free and easy-to-use tool that allows you
to create custom enrichment and amplicon designs.
It's fast and provides high target coverage
for even tough to design regions.
The program is simply accessed through the Illumina website.
With AmpliSeq for Illumina, you can design panels
from 12 to more than 12,000 amplicons,
in general up to four pools.
If you have questions or issues anywhere along the way,
technical support and Concierge design service experts
are always available to help.
You can play around and create as many designs as you want.
First, start your design and choose your assay type,
which will either be AmpliSeq for Illumina Gene Design
or AmpliSeq for Illumina DNA HotSpot.
In this case, we're selecting AmpliSeq
for Illumina DNA Gene Design.
Hotspot is always one pool and a majority of gene designs
are two pool designs.
Then, select the species you're working with.
In this case, we're choosing human,
we have many different options.
Name your design and if you'd like to,
you can add a description.
Next, configure your design to specify a sample type
and a maximum amplicon length.
Here, we're selecting regular DNA samples,
but FFPE and cfDNA sample types are also supported.
Next, you'll add your targets.
You can do this in three different ways.
The first option is to enter the gene names of interest.
Gene names that match what you type
in the search box will appear.
It's very simple.
The second option is to enter the coordinates of interest.
The third option is adding a file.
You can do so by adding a file that contains gene names
and/or coordinates.
Save either as a CSV or BED file, then browse and upload it.
Next, click Submit to start on your design.
The software is now processing your design.
In a few hours, you'll receive an email when your design
is ready for review.
Once you have your design, the most useful metric
for assessment is coverage.
You should be aiming for 95% or greater coverage.
Design stringency can be adjusted
to try and improve coverage.
You can also see your regions of interest
that were not covered, if anything was missed.
You can visualize your gaps
using the UCSC genome browser.
Again, if you ever need help, you can go
right to the bottom bar on the page.
If you are still not happy with the design you see,
you can contact our Concierge Services group
for further assistance in designing your assay.
If you're happy with your design,
just click the Get Pricing button next.
This takes you to your MyIllumina account.
From here, you will get a pricing estimate
for your project needs.
You can add all to cart and check out directly,
like with any other Illumina product.
Or you can request a quote.
Your quote will be generated
within one to two business days.
When your quote is ready, you will be able to redeem it
from the Quotes section in your account.
We hope you've seen how simple and easy it is
to get started designing your own custom Amplicon panels
with targeted NGS using DesignStudio
and the AmpliSeq for Illumina solution.
(lively music)