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Clinical Genomics, Informatics in Lisbon


By Bio-IT World Staff 
 
October 17, 2013 | Bio-IT World is taking on Europe this December under a new name: Clinical Genomics & Informatics Europe. For our fifth year in Europe, we’re refining the focus of the event and digging specifically into clinical genomics and the informatics that underlie progress. Our sequencing track will cover both clinical exome sequencing and RNA sequencing, and on the informatics side of the house, we’ll look at high-scale computing and genomic informatics.  We’ll also hold two pre-event symposia on digital detection and clinical epigenetics. 
 
Our host city this year is Lisbon, the oldest city in Western Europe, and a true international city—a fact reflected in its food and culture. If the location wasn’t enough of a draw, the stellar speakers driving the conversation this year represent academia, medical centers and industry drawn from organizations across Europe as well as North America. The program is rich with standout speakers. Here are just a few of the presentations we’ve flagged.  
 
We look forward to joining you in Lisbon! 
 
The Editors
 
 
Anne Cambon-Thomsen (Centre National de la Recherche Scientifique (CNRS); France) discusses the ethics of data-sharing and how anonymous we can truly be. The policies of data sharing are strongly re-affirmed by numerous research institutions and funders. This movement in the context of the availability of large-scale sequencing technologies for studying human genomic variation is confronted with the legal and ethical aspects regarding privacy, confidentiality, clinically useful information and the duties attached. Issues related to identifiability, consent process and regulation of access especially challenge the existing framework. Current developments will be discussed. Keynote, Friday, Dec 6, 12:15  
 
Niklas Blomberg (EMBL-EBI; United Kingdom) presents ELIXIR: The European Research Infrastructure for Life Science Data. The mission of ELIXIR is to construct and operate a sustainable infrastructure for the sharing of biological information throughout Europe, to support life science research and drive its translation to medicine and the environment, the bio industries and society. ELIXIR meets the challenges in storing, integrating and analyzing the data from modern biological experiments through a distributed e-infrastructure of bioinformatics services built around established European centers of excellence. Keynote, Wednesday, Dec 4, 08:40 
 
Timothy Hubbard (Wellcome Trust Sanger Institute; United Kingdom) moves from genome annotation to genome medicine, focusing on the GENCODE geneset as part of the ENCODE project and the impact of RNA-seq. Hubbard plans to discuss the latest human genome assembly from the Genome Reference Consortium (GRC) and requirements for integrating genomics into healthcare systems and summarize progress towards genomic medicine in UK. Keynote, Thursday, Dec 5, 11:45  
 
Hans-Hilger Ropers (Max Planck Institute for Molecular Genetics, Germany) explores new sequencing technologies and how we can speed up their clinical implementation. There is no doubt that new sequencing techniques will revolutionize genetic diagnosis and health care, but their clinical implementation still lags behind. There are challenges. The public is unaware of the opportunities of genome sequencing and plagued with misconceptions about its dangers, which are related to the failed ‘common disease-common variant’ paradigm. Budget concerns and suboptimal organization of genetic health care limit work in many countries. However, none of these obstacles are insurmountable. Keynote, Wednesday, Dec 4, 08:40 
 
Gholson J. Lyon (Cold Spring Harbor Laboratory, United States) argues that more caution should be exercised in genomic medicine settings when analyzing individual exomes and genomes, including interpreting positive and negative findings with scrutiny, especially for indels. He’ll advocate for renewed collection and sequencing of multi-generational families to increase the overall accuracy of whole genomes. Wednesday, Dec 4, 14:05  
 
Elizabeth Worthey (The Medical College of Wisconsin, United States) shares experiences from the first 18 months of MCW’s Genomic Medicine Clinic. As the first genomics-based integrated genetics clinic of its kind its development required patient counseling, analysis, interpretation, and data reporting. Worthey discusses how to incorporate genomic data to support diagnosis with a particular focus on the informatics as well as providing discussion of the discoveries, challenges and lessons learned applying NGS in the clinic. Wednesday, Dec 4, 15:05 
 
Carsten O. Daub (Karolinska Institutet, Sweden) explores genome-wide expression profiling for contrasting disease and control patients in inflammatory disease that allows not only identification of differentially regulated protein or non-coding transcripts but also inference of the underlying regulatory events. Friday, Dec 6, 15:35 
 
Gianmauro Cuccuru (CRS4 Bioinformatics Laboratory, Italy) discusses how combining scientific workflow applications (Galaxy) with state-of-the-art processing technologies like Hadoop, OMERO and iRODS can empower more complex life science studies while providing scalability, full reproducibility and traceability. Wednesday, Dec 4, 09:10 
 
Wolfgang Gentzsch (The UberCloud HPC Experiment, Germany) presents EUDAT—a project aimed at developing and supporting a collaborative data infrastructure, allowing researchers to share data across communities and carry out research effectively. EUDAT’s data services, like persistent storage, identification, authenticity, workflow execution and mining, can leverage cloud storage. But copyright or national law might not allow the data to leave the country or even the data centre in which they are curated. EUDAT takes a long-term view of the data it holds and is considering “trust marks” for digital archiving. Wednesday, Dec 4, 17:15 
 
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