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Bio-IT World and Cambridge Healthtech Institute’s Inaugural

Clinical Exome Sequencing
Changing the Nature of Genetic Diagnosis

4-5 December 2013 | Sheraton Lisbon Hotel & Spa | Lisbon, Portugal

Day 1 | Day 2 | Download Brochure | Biographies  


08:00 Morning Coffee


08:30 Chairperson’s Opening Remarks

German Pihan, M.D., Staff Pathologist and Director, Hematopathology Service, Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School, United States

08:35 Strategies for Disease-Gene Identification in Exome Sequencing

Peter N. RobinsonPeter N. Robinson, Ph.D., Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Germany

Whole exome sequencing (WES) is revolutionizing many areas of diagnostics and research in human genetics, but the sheer number of candidate genes revealed by typical WES studies represents a challenge to medical and biological interpretation. We will present new algorithms for utilizing phenotypic analysis and protein interaction networks to effectively prioritize candidates in exome sequencing studies.

09:05 The Post-WGS Cancer Genome: Alphabet Soup, Syllabus or Cyclopaedia?

German PihanGerman Pihan, M.D., Staff Pathologist and Director, Hematopathology Service, Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School, United States

Review of how the WGS cancer genome data deluge is changing our views of the pathogenesis and biology of cancer as well as how the new knowledge may be harnessed to combat the “Emperor of all maladies.”

09:35 Sponsored Presentation (Sponsorship Opportunity Available)

10:05 Coffee Break in the Exhibit Hall with Poster Viewing

10:45 Sponsored Presentation (Sponsorship Opportunity Available)

11:15 Integrated Exome Sequencing and Copy Number Analysis of Pancreatic Cancer Reveals a HER2-Amplified Subtype

Mark CowleyMark Cowley, Ph.D., Senior Bioinformatics Research Officer, Genome Informatics & Clinical Genomics, The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Australia

We have recently performed WES and copy number analysis from 99 pancreatic ductal adenocarcinoma tumors within the ICGC. By copy number analysis, and supported by WGS, microarray analysis, IHC and FISH, we identified a case with HER2-amplification. Our results have potentially defined the first targeted therapy for pancreatic cancer, which we are taking to an adaptive clinical trial.


11:45 From Genome Annotation to Genome Medicine

Timothy Hubbard. Ph.D.Timothy Hubbard, Ph.D., Senior Group Leader, Wellcome Trust Sanger Institute, United Kingdom

I will describe the status of the human genome sequence and its annotation, in particular the generation of the GENCODE geneset as part of the ENCODE project and the impact of RNA-seq. I'll also discuss the latest human genome assembly from the Genome Reference Consortium (GRC). As the UK plans to sequence 100,000 human genomes in the National Health Service (NHS), I'll discuss requirements for integrating genomics into healthcare systems and summarize progress towards genomic medicine in UK.

12:35 Close of Conference

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Final Agenda 

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Clinical Exome Sequencing 



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Pre-Conference Symposia:

Clinical Epigenetics 

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