Clinical Genomics


Day 1 | Day 2 | Download Brochure | Short Courses 

Genomic technologies hold the potential to improve diagnosis and treatment of inherited disease and cancer, as well as the move towards personalized medicine. However, genomic data is complex. The shift from discovery research to clinical implementation can only be accomplished through stringent data management, analysis, interpretation, and quantification. Bio-IT World Europe is pleased to launch the Inaugural Clinical Genomics conference. Ultimately, putting genomic data analysis tools in the hands of biomedical experts will ensure that patients receive the correct diagnosis and treatment.

Monday, 8 October

Pre-Conference Short Courses 1 & 2 


Tuesday, 9 October

7:30 Conference Registration and Morning Coffee

» Plenary Keynotes 

8:00 Chairperson’s Opening Remarks

Kevin Davies, Ph.D., Editor-in-Chief, Bio-IT World

8:10 Knowledge Management for Public-Private Partnerships in Translational Science: An Introduction to the IMI eTRIKS Consortium

Yike GuoYike Guo, Ph.D., Professor, Computing Science, Imperial College London




8:55 The Cloud for Distributing and Annotating Genomic Information

Paul FlicekPaul Flicek, D.Sc., Principal Investigator & Head, Vertebrate Genomics Team, EMBL-European Bioinformatics Institute

Providing large genomic data sets such as those produced by the 1000 Genomes Project or Ensembl within the cloud dramatically expands the number of researchers who can access these data and frees them to undertake projects that would be impossible otherwise. We are adapting increasing complex analysis and annotation pipelines for the cloud in an effort to democratise high quality genome assembly and annotation is the same way that NGS technology made the production of the sequence itself available to anyone.

9:40 EU Strategy for High Performance Computing – Leveraging Bio-IT

Aniyan VargheseAniyan Varghese, Ph.D., Programme Manager, C1- e-Infrastructure, DG-CONNECT, European Commission

10:25 New Technologies, Investments in Data Collaborations/Personalized Medicine

Hermann HauserHermann Hauser, CBE, Partner, Amadeus Capital Partners





11:10 Coffee Break

The Road to the Clinic: Genomic Variants to Clinical Candidates 

11:30 Epigenetic Biomarker Development

Christoph Bock, Ph.D., Principal Investigator, CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences; Visiting Professor, Medical University of Vienna; Adjunct Group Leader, Max Planck Institute for Informatics

The European epigenome project is currently establishing epigenome maps for 100 hematopoietic cell types, including purified stem and progenitor cells as well as lymphoma and leukemia cells. I will describe progress in this project with a focus on the biomarker work package, which is aimed at helping medical researchers translate epigenome maps into clinically useful biomarkers. I will also describe bioinformatic methods and tools that facilitate the analysis of large-scale epigenome maps.

12:00 Are Transcription-Induced Chimeras in Normal Tissues Artifacts or Real Events?

Francesca Cordero, Ph.D., Researcher, Department of Computer Science, University of Torino

RNA-seq has the potential to discover genes created by complex chromosomal rearrangements. Aberrant fusion genes formed by the breakage and re-joining of two different chromosomes have repeatedly been implicated in cancer development. Although RNA-seq can detect these fusion events, normal cells seem to be also characterized by read-through fusions across adjacent genes in the genome, or transcription-induced chimeras (TICs). We investigated the presence of TICs events in 16 normal tissues. Our results suggest the lack, in normal human tissues, of trans-splicing events. More than 99.999% of the reads could be mapped to canonical transcripts. Few TICs were detected as associated to exon coding fusion, by mate-pair reads. However, none of those TICs could be reconfirmed by the detection of exons junction spanning reads.

12:30 Close of Session and Enjoy Lunch on Your Own

The Road to the Clinic: Software Tools Shifting from Bioinformatics to Clinical Practice 

14:00 Chairperson’s Remarks

Kip Harry, Associate Producer, Conferences, Cambridge Healthtech Institute

14:05 Sequencing Pools of Individuals (Pool-Seq) from Sequences to Biology

Christian Schlötterer, Ph.D., Professor, Department for Biomedical Sciences, Institut für Populationsgenetik, University of Veterinary Medicine Vienna

Sequencing pooled DNA from multiple individuals has been shown to be a cost-effective approach to obtain genome wide allele frequencies. We developed software tools, which allow non-experts to handle Pool-Seq data to compare population samples. I will discuss how this approach could be used for GWAS.

14:35 Clinical Sequence Analysis

Hakon Gudbjartsson, Ph.D., VP, Informatics Operations & Product Development, deCODE Genetics

Next-generation sequencing technologies provide tremendous opportunities for studying genetic diseases and for identifying pathogenic sequence variants in clinical care settings. At the same time, the introduction of high-throughput sequencing as part of routine clinical care, presents many informatics challenges which have to be addressed, such as the staggering data volumes and the inherent potential of this technology to uncover new sequence variants. We introduce the Clinical Sequence Miner, a system for large-scale clinical sequence analysis based on a novel GOR architecture which provides a more scalable framework than conventional RDBMS for working with large volumes of sequence data. The GOR architecture will be presented and it will be demonstrated how it can be used in a cloud based setting, while at the same time, providing an easy integration to clinical data in a legacy RDBMS.   

Genologics15:05 Sequencing in the Clinic: Using a Lab Information Management System to Bridge the Gap between Optimization and Precision 

John Hogg, Field Application Scientist, GenoLogics Life Sciences Software 

Compelling cases of patient value from medical sequencing have recently been presented which serve as a blueprint for personalised medicine. Integrating sequencing technology into clinical settings, presents challenges involving protocol and instrument optimization versus the need for standardization and enforcement. Overcoming these challenges will be discussed.  

15:20 Selected Poster Presentation: DARIO: A ncRNA Detection and Analysis Tool for Next-Generation Sequencing Experiments 

David Langenberger, Research Scientist, Bioinformatics Group, Department of Medicine and Interdisciplinary Center for Bioinformatics, University of Leipzig

15:35 Refreshment Break in the Exhibit Hall with Poster Viewing

16:15 Digging Deeper into Data Discussion Groups

Pull up a chair and join one of the discussion groups! These are moderated discussions with brainstorming and interactive problem solving, allowing conference participants from diverse areas to exchange ideas, experiences, and develop future collaborations around a focused topic.

Click Here to View Discussion Groups 

17:45 Welcome Reception in the Exhibit Hall with Poster Viewing

18:45 Close of Day

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