I am writing this, having just returned from the Illumina Scientific Summit (ISS) in Berlin. I don’t know about the rest of the attendees, but I had a brilliant time and learned a lot but also feel very tired. Looking for proverbs to tie into the previous blog post, I was struck by the large number of health-related proverbs and this one is quite appropriate today: “Eat well, drink in moderation, and sleep sound, in these three good health abound.” I think we all ate well, as the food was very good... not sure about the other two though.
This post will focus on the other two sessions that took place during the ISS in Berlin: Genetic Disease and Translational Genomics. Again, some recurrent themes ran through as a number of speakers brought up the prioritization of genes and variants when sequencing. Peter Robinson from the Charite in Berlin spoke about how to limit the list of candidates, as just using predicted variant pathogenicity will not be enough. Peter discussed some of the software tools they and others are developing to address these needs, such as Exomizer and human phenotype ontology. The issue of prioritization also came up in the talk from Philip Rosenstiel (IKMB Kiel). What I found really interesting was not only the amount of exome data presented, but how it linked back to the Microbiology session that I mentioned from the previous day. Dr. Rosenstiel's talk was about the uncurabe Crohn’s disease, and how there has been a sharp rise in incidence, and a large number of associated loci identified. One of the key challenges is understanding the link between host genetics and microbial flora. Dr. Rosenstiel provided some interesting evidence that while the metagenome clearly influences our health, our genome may very well impact the health of our metagenome.
There is still so much of our genome that remains to be found. The ENCODE project was set up to find all the functional elements in the genome, and Ian Dunham from the EBI highlighted the sheer scale and potential follow-up experiments of this project. The project was performed by 11 groups, from 50 labs, and had 30 lead principal investigators who generated more than 5 terabases of data within 16,000 files. By segmenting the genome into regions with similar signal over a number of assays, they established that there are 7 major flavours of the genome. A lot of further analysis is ongoing, but a very interesting area is the interaction and the integration of the ENCODE data with all known GWAS project results.
In the Translational Genomics session, Richard Sinke from the University Medical Centre Groningen spoke about targeted panels for the MiSeq that are used in the offering of diagnostics tests. The panels performed very well in their hands without false positives and false negatives, but Dr. Sinke highlighted that the major bottleneck is data analysis, which was echoed by Elia Stupka (San Raffaele Research Hospital in Milan). Elia mentioned that in his group, the ratio of time spent in dry lab to wet lab is 3:1, and that interdisciplinary communication is key. Carsten Bergmann from Bioscientia gave a fascinating talk on spoke on ciliopathies. First described in 1898, cilia were largely ignored. However, there are a large number of syndromes linked to ciliopathies such as Bardet-Biedl and Joubert syndrome. It can be a real challenge to tell the different ciliopathies apart, and diseases like polycystic kidney disease really paved the way for studies of ciliopathies.
A big thank you to all presenters for a great lineup of talks, and to all the delegates who attended the scientific summit!