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9:00 Conference Registration and Morning Coffee


INFECTIOUS DISEASE: Sequencing Microbes to Metagenomes Enables Diagnostics to Prognostics

9:30 Chairperson’s Opening Remarks

9:35 Next-Generation Sequencing in the Analysis of Polymicrobial Infections: Some Essential Considerations

Geraint Rogers, Ph.D., Pharmaceutical Science, King’s College London, United Kingdom

The development of next-generation sequencing presents an unparalleled opportunity to investigate the highly complex microbial interactions that are involved in many clinical infections; however, without due consideration of factors such as appropriate sample acquisition and handling, exclusion of non-viable microbial cells, and downstream data processing, the insight provided by its application is greatly diminished. Areas of experimental design key to successful infection analysis will be discussed.

10:05 Comparative Genomics to Understand the Population Structure and Evolution of the Major Human Pathogen Mycobacterium Tuberculosis

Stefan Niemann, Ph.D., Head, Molecular Mycobacteriology, National Reference Center for Mycobacteria, Research Center Borstel, Germany

Whole genome sequencing using “next-generation” technologies allows the cost-effective re-sequencing of larger collections of major human pathogens, e.g. clinical isolates of the Mycobacterium tuberculosis complex (MTBC). This process allows deciphering a much more accurate picture of the global population structure and evolution of the MTBC. It will shed light on the micro evolutionary processes occurring in M. tuberculosis strains during spread, especially in the context of multidrug resistance.

10:35 Coffee Break

11:00 The Human Intestinal Metagenome

S. Dusko Ehrlich, Ph.D., Research Director and MetaHIT Coordinator, Department of Microbiology and Food Chain (MICA), INRA, France

We have established an extensive catalog of the gut microbial genes within the MetaHIT consortium, using metagenomic sequencing. Some 0.6 Tb sequence of the DNA prepared from fecal samples of 124 individuals of the European origin was generated, assembled and analyzed. The catalog contains 3.3 million non-redundant microbial genes, 150 times more than the human gene complement, contains an overwhelming majority of the prevalent microbial genes present in the cohort and likely includes a large proportion of the prevalent human intestinal microbial genes. This catalog opens avenues towards new diagnostic and prognostic tools, based on associations of bacterial genes and human disease.

11:30 Novel Diagnostic Opportunities for Oral Health through Application of NGS

Frank Schuren, Ph.D., Senior Scientist, Microbiology, TNO, The Netherlands

TNO and the Academic Centre for Dentistry Amsterdam (ACTA) have joined forces in the aim to a full fundamental insight in biological processes and etiological factors that underlie conservation of oral health and to develop of novel, integrated approaches for diagnostics and prevention in oral care. Data generated on the temporal and spatial dynamics of the oral ecosystem, interaction with the host, and in relation to oral health status will be presented. This combined approach has proven to be a powerful strategy to elucidate fundamental interactions between the oral microbiota and the host in relation to maintenance of oral health status.

Sponsored by
12:00 Agilent Technologies’ SureSelect Platform: Flexible High Performance Target Enrichment System for Next-Gen Sequencing
Angelica Giuffre, R&D Scientist III, Genomics Division, Agilent Technologies
 Next-gen sequencing offers increased throughput, but whole genome sequencing remains cost-prohibitive.  Agilent’s SureSelect platform enables focused analysis on particular genomic loci with substantial cost savings.  We demonstrate the flexibility and functionality of our in-solution method through targeted sequence analysis of: 1) genomes of multiple species, 2) human genome subsets like the exome and kinome, 3) custom content size (<200Kb to >60Mb), complexity, and chromosomal location.  Our capture efficiency, uniformity, reproducibility, and SNPs detection with high specificity and excellent coverage demonstrates the utility of SureSelect.

12:30 Lunch for Purchase in the Exhibit Hall

13:45 Dedicated Poster Viewing in the Exhibit Hall



CANCER: Deep Sequencing for Genomic Rearrangements

14:30 Chairperson’s Remarks

14:35 Systems Medicine Perspective towards Bionetworks-Based Discovery of Biomarkers and Biologic Agents in Cancer

Dimitrios Roukos, M.D., Ph.D., Associate Professor, Department of Surgery, Ioannina University School of Medicine, Greece

Emerging evidence suggests that cancer initiation, progression and metastases are driven by interacting genes, signaling pathways and cancer cell interactions within an individual tumor. The cancerous process is further complicated by the impact of environmental factors, lifestyle, genetic ancestry and susceptibility to cancer. These bionetworks are modestly considered by the current R&D for drug discovery. This presentation will describe how systems medicine and biology approaches may lead to biomarkers and biologic drugs in cancer prevention and treatment. Challenges and expectations to understand the complex genotype-phenotype map towards personalized medicine will be discussed.

15:05 Highly Sensitive Detection of Genome Instability Using Next-Generation Sequencing

Francesca Ciccarelli, Ph.D., Principal Investigator, IEO, European Institute of Oncology, Italy

We have developed a highly sensitive procedure to measure genomic instability that is based on the re-sequencing of a cancer genomic region using next-generation sequencing technology. Using this approach, we detect genomic instability even in nonneoplastic tissues of cancer patients, thus showing that our procedure is more sensitive of currently used methods. This constitutes the proof of principle for the development of a more sensitive molecular assay of genomic instability.

15:35 Refreshment Break

Sponsored by
16:00 Understanding Genomic Variations in NGS Data

Frank Schacherer, Ph.D., COO, BIOBASE GmbH
Next generation genome sequencing yields thousands of SNPs, but which of these have functional impact, and which are just noise? In this presentation you will learn how you can use the new NGS offering from BIOBASE, Genome TraxTM, in combination with both public and commercial tools, to quickly identify functional genomic elements in sequence data from NGS. You will be able to map SNPs to mutations that are associated with disease, and to gene regulation sites, adding value to the sequence data you generate.

16:15 Sponsored Presentation (Opportunity Available)

16:30 To Be Announced

17:00 Deep Clonal Sequencing of Archival Tumor Samples Increases Mutation Detection Success

Neil Gibson, Ph.D., Team Leader, Research and Genetics, AstraZeneca, United Kingdom
AZD7762 has been shown to potentiate response in several different settings where inhibition of checkpoint kinase results in the abrogation of DNA damage-induced cell cycle arrest. To determine whether tp53 mutation is predictive of clinical response to AZD7762, it is necessary to sequence the gene at high sensitivity in clinical tumor samples. We describe a method for the next-generation clonal sequencing of the tp53 gene in formalin fixed tumors that enables mutation detection down to an estimated clonal frequency of 5% combined with high data generation success. We also discuss the practical requirements of a sequence-based diagnostic assay for highly polymorphic genes such as tp53.

17:45 Interactive Breakout Discussion Groups

Join a facilitated discussion group focused around specific scientific and technology related topics. This unique session allows conference participants to exchange ideas, experiences, and develop future collaborations around a focused topic. Current discussion groups include:

NGS and Data Quality for Diagnostic Applications

Moderator to be Announced.

Discussion topics include:

  • Sources of error and methods to address them
  • Run quality
  • Platform specific errors
  • Amplification
  • Alignment errors and artifacts
  • Detection of low abundance variants
  • Contamination


Circulating Tumor Cells and Cell Free Nucleic Acids: A Real Time Access to the Cancer Genome

Tim Ward, Ph.D., Staff Scientist, Clinical and Experimental Pharmacology, Paterson Institute for Cancer Research, University of Manchester, United Kingdom

Discussion topics include:

  • Can we use circulating DNA as a surrogate for tumor DNA?
  • Does circulating DNA represent the cancer genome?
  • Will micro RNA be more informative?
  • Can we undertake molecular characterisation of low numbers of circulating cancer cells?


What Does Success Look Like for an Infectious Disease Molecular Diagnostics Test, and Which of the Following Factors Drive This?

Vanya Gant, M.D., Ph.D., Head of Departments of Microbiology and Infectious Diseases, University College Hospitals, NHS Foundation Trust, United Kingdom

Discussion topics include:

  • Ease of use?
  • Robustness?
  • Ease of implementation?
  • Price?
  • Speed?
  • Performance?
  • Gap in existing market?


High-Throughput Protein Detection Technologies in Molecular Diagnostics of Cancer
Cristiana Tanase M.D., Ph.D., Head,  Biochemistry Proteomics, Victor Babes National Institute of Pathology, Romania
Discussion topics include:

  • Multiplex analysis for biomarkers in cancer
  • Early detection of biomarker by serum samples analysis
  • Proteomic profiling biomarker discovery by SELDI-ToF-MS, MALDI-ToF-MS, 2DGE and others


NGS: Opportunities for Improving Oral Care Diagnostics. Translating Research to Practice.
Frank Schuren, Ph.D., Senior Scientist, Microbiology, TNO, The Netherlands
Discussion topics include:

  • How can the oral care patient benefit from NGS technology?
  • What are the potential hurdles to bring NGS from and R&D setting into routine diagnostics setting?
  • What do we need to translate NGS data and technology to the oral care practice?
  • Could diagnostic NGS data sets be used for data mining?


19:15 – 21:00 CHI Networking Reception

Sponsored by

  Qiagen small logo

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