A few weeks on from ESHG, I find myself once again in Germany travelling by train. It is a great way to reflect on ESHG and what really stood out. I was truly amazed by the changes brought about by Next Generation Sequencing (NGS) in so many different areas of research. However the overriding theme of ESHG for me was the sheer amount of human exomes being sequenced. We reflected on this on other posts, the key question is will this continue? Will the exome give use everything we are looking for? It is clear that people are ready to move exome sequencing into a clinical setting, I think it is also clear that people will do panel sequencing of their key genes of interest, but likely it will not identify all the causes of disease. So what about other approaches to identify human disease?

It was difficult to choose between concurrent sessions on the last day of ESHG, so I tried to attend two different ones. I started with the session “Intellectual Disability: From Gene to Function”. Here, as noted in our earlier post, exome talks were again very much in evidence.

One of the observations from this year’s ESHG is the sheer number of exomes that are being sequenced. This topic was discussed extensively in “Next Generation Sequencing Going Clinical”, a very well-attended session. A long anticipated entrance to this important market seems to finally be taking place on a broader level.

Sunday started for me with the session on statistic analysis of sequence data in complex disease. It's not an easy topic to digest first thing in the morning but the three speakers, Ben Neale, Andrew Morris, and Yukihide Momozawa did a great job of describing their methodologies.

That cancer research and genetics is a hot topic does not come as a surprise to most. ESHG is no exception and several sessions today focused on cancer and cancer genetics. In the session around Basic Research in Cancer Genetics, several talks focused on the use of Next Generation Sequencing (NGS) to unravel the genetics of cancer.

The first session of ESHG 2012 in Nuremberg was referred to as the Local Heroes session, a great lineup of three speakers from the host country. The first speaker was Prof. Dr. Stefan Mundlos from the Charite in Berlin. Professor Mundlos’ talk was about the regulome as the next frontier in Human Genetics. So far, the big focus has been on coding sequences, but it is only 1.5% of the total genome, so what is in the rest? These “gene deserts” contain highly conserved regions. He described the usage of histone marks to identify regulatory elements by ChIP-Seq. Regulatory elements control the expression pattern spatially and temporally and he gave a number of different examples such as the HOX cluster, as well as SOX9.

Illumina’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.

Lukas Smink

My current role at Illumina is as EMEA Marketing Manager focusing specifically on Sequencing and BioInformatics. I have been at Illumina for the last four years, starting in Technical Support as a Bioinformatics Support Scientist in our UK office. Although I am UK based, I was born in the Netherlands.  I ended up in the UK,  for what was meant to be a 6 month university research project, 20 years on and I am still living and working in the UK. I was lucky enough to join the Sanger Institute where I did my PhD, and it was during my PhD that I discovered I much preferred writing code over labwork and so moved into Bioinformatics and have focussed on data analysis ever since. After my PhD, I headed up the Genome Informatics Group at the Diabetes and Inflammation Laboratory at the University of Cambridge developing T1DBase.org.