NGS Expert Blog

With today’s press release I am happy to announce that AROS Applied Biotechnolgy A/S  is now a member of the Eurofins group.

Here is a short introduction of our new colleagues from AROS:

• AROS was founded in the year 2000
• AROS started as a spin off of from the Aarhus University Hospital and was the first service provider for Affymetrix in Europe
• AROS is based in Denmark and provides a long term experience in sample preparation, microarray analysis and next generation sequencing (NGS)
• Nowadays AROS has a leading position in NGS service for pharmaceutical research
• AROS is an Illumina reference lab for next generation sequencing
• The main focus in NGS is RNA-Seq and exome sequencing that is accomplished with the exome designs of the leading provider in this area (Illumina TruSeq Exome Enrichment, NimbleGen EZ Capture & Agilent SureSelect)

“AROS is an excellent fit […] with our focus on high-quality next-generation sequencing […]” (Dr. Gilles Martin) and therefore I am confident that this new alliance will help us both in further expanding our experience level in NGS and to benefit from our complementary strength.

I am sure you will hear more about the activities from AROS on our blog and hope you join me in welcoming AROS as a member of Eurofins.

Dear Blog readers,
today I am really delighted to announce the launch of the NGS Favourites.

NGS Favourites are the straightforward solution for your Next Generation Sequencing project. They are based on the wealth of knowledge that we have accumulated from over 5 years of servicing the NGS community and represent optimised packages for common NGS applications.

The NGS Favourites stand out due to:

• Project-oriented solutions
• Economic costs
• Easy ordering

The NGS Favourites are available for different fields of applications:

• Genome Sequencing Favourites - using shotgun (SG) libraries only or a combination of SG and LPE libraries
• Transcriptome Sequencing Favourites – receive comprehensive data you can really build on
• Exome Sequencing Favourites – sequence 6 human Exomes with the Illumina TruSeq Kit
• Library Service Favourites – get your libraries for GS FLX sequencing prepared from us

Find your suitable Favourite and explore the easy way of sequencing with us as your professional project partner.

Many large scale exome sequencing projects are funded and underway to analyze rare Mendelian diseases. This technology is often the choice as it is more affordable than whole genome sequencing (WGS) and therefore allows analyzing more patients. In addition it has the advantage that resulting data volumes are much smaller and therefore easier to handle.

But – when looking only on those regions targeted by the exome technology – are the results of an exome sequencing experiment really comparable to a WGS experiment?
 
The study from Clark et al., 2011 focused on this question and found that neither of the technologies managed to cover all sequencing variants. When applying 50 million reads for exome sequencing and 35-fold coverage for WGS, the study came to the following results.

- WGS detected between 660 and 4600 SNPs that were not called from the exome sequencing data and
- Exome Sequencing detected between 2600 and 3200 SNPs that were not called from the WGS data.

What can we conclude from this? First, WGS can not and will not replace exome sequencing as due to genome characteristics there will always be regions that are not covered sufficiently for SNP calling. As oligonucleotide designs of available exomes are balanced regarding regions with low coverage, exome sequencing shows higher sensitivity towards these regions. Second, WGS has its value in detecting variants in regions that are not covered by exome enrichment technologies. These are regions where enrichment fails as well as regions that are not present on the current exome designs.

So for covering really all variants it might be worth thinking about doing both experiments in parallel. Both technologies complement each other.

The June webinar of the free NimbleGen webinar series is talking about
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy >

For further information and registration, please visit the NimbleGen website.