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Looking forward to ESHG 2012

Luc Smink
| Jun 22, 2012

ESHG cover resized 600Illumina’s mission statement is to be the leading provider of integrated solutions that advance the understanding of genetics and health. Looking through the abstracts for this year's ESHG, I am struck by the fact that this meeting is really the embodiment of our vision, researchers and clinicians using the array and sequencing technology to advance genetic understanding and health. Not long ago, the focus of abstracts was very much on technology. This has changed dramatically over the last year or so, as Abizar Lakdawalla also observed for this year's AGBT. It is clear that there has been a real shift from technology towards applications.

In terms of sequencing, the other interesting observation is that it is no longer just Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES) that feature but also other sequencing applications such as the study of the Methylome and the Transcriptome and the integration of data from the different applications to drive discovery. What really excited me is that there is a dedicated session for the use of Next Generation Sequencing (NGS) in the clinic, "NGS Going Clinical". We have come a long way from the introduction of the first NGS platforms in 2007!

The very rapid increase of throughput, the drive of NGS into the clinic and the data and analysis burden will require novel ways to analyse and store the data. Cloud computing is an attractive solution in many ways, it decreases the overhead from an end user perspective, but what are the implications of using this for clinical data. Illumina has its own cloud solution, BaseSpace, we are very interested to hear your perspectives on the use of the cloud for data storage and analysis. We will be running a survey on the BaseSpace website, to really capture your views.

What does all of this mean for the patients though? What are the implications of using new technologies and cloud computing- what about informed consent and incidental findings? These are likely to be hot topics and it will be interesting to follow the discussions.

Here is to an exciting ESHG in Nuremberg, and we will do our best to keep those of you unable to attend informed of the latest research through these blog posts as well as on Twitter (follow @illumina), and for those of you attending, come and say hello and share your views with us.