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NGS:  Molecular Diagnostics Magnified 

Next-generation sequencing (NGS) platforms have enabled the sequencing of human and microbial genomes at an unprecedented rate and at a significantly lower cost. In addition, direct sequencing is much more precise and is facilitating the growth of novel medical diagnostics. Cambridge Healthtech Institute’s second Annual NGS: Molecular Diagnostics Magnified addresses two applications with widespread diagnostic impact: deep re-sequencing for cancer and microbial sequencing for infectious disease. Share insights and experiences with biomedical researchers at the forefront of this rapidly expanding and clinically relevant field.



SAVE UP TO 950 EUR off the regular admission when registering for both back-to-back sequencing events:

NGS Data Management (11-12 October)
NGS: Molecular Diagnostics Magnified (12-13 October)

Register online today (make sure to choose the NGS All Access Package option) or call our customer service representatives at +1 781-972-5400. 

Day 1 | Day 2 | Download Brochure 


13:00 Conference Registration


Sequencing For Infectious Disease 

14:00 Chairperson’s RemarksDag Harmsen, M.D., Head of Research, Periodontology Department, University Hospital Münster 

14:05 Next-Generation Sequencing for Infectious Disease Surveillance - from “Base Pair to Bedside”

Dag Harmsen, M.D., Head of Research, Periodontology Department, University Hospital Münster

Next-generation sequencing (NGS) has fundamentally altered genomic research. New developments will bring NGS costs and performance down to an everybody’s technology with extreme potential for ultra fast and accurate molecular bacterial typing as it provides the ultimate whole genome information. However, the current bottleneck in analysis, i.e. bioinformatics, needs to be overcome to make successfully the transition from data to knowledge in routine infectious disease surveillance.

14:35 Adaptation of Next-Generation Sequencing for Exploration of the Malaria Epigenome

Richard Bartfai, Ph.D., Postdoctoral Fellow, Molecular Biology, Nijmegen Center for Molecular Life Sciences, Radboud University Nijmegen

Exploration of epigenetic regulatory mechanism unique to Plasmodium falciparum, the causative agent of malaria, could provide novel targets for drug development. We have developed the Linear Amplification for Deep Sequencing (LADS) method that enables preparation of highly representative sequencing libraries from the extremely AT-rich P. falciparum genome. Using this novel method we analyzed the epigenome (ChIP-seq) and transcriptome (RNA-seq) of the parasite at unprecedented depth, during multiple stages of development.

15:05 The Transcriptional Landscapes of Human Pathogenic Fungi Revealed by Next-Generation Sequencing

Kai Sohn, Ph.D., Molecular Biotechnology, Fraunhofer Institute for Interfacial Engineering and Biotechnology

Human pathogenic fungi are causing superficial infections of the skin but also life-threatening systemic diseases. To define the pathogenicity at the molecular level, information about the genomes and the corresponding transcriptomes is crucial. We applied next-generation sequencing for the qualitative annotation as well as for the quantitative analysis of the transcriptional landscapes in different Candida species that represent the most important fungal pathogens.

15:35 Extended Refreshment Break - Networking with Sponsors


16:45 Deep Sequencing as Diagnostic Tool for Highly Pathogenic VirusesAleksandar Radonic, Ph.D., Center for Biological Security, Robert Koch Institute

Today nucleic acid-based diagnostics has become the gold standard for the identification of viral and bacterial pathogens in clinical as well as in environmental samples. Because of their pronounced specificity, PCR-based techniques may often fail to detect new or emerging pathogens with differing or so far unknown genetic information. Compared to electron microscopy, with a perfect diagnostic “open view” but serious restrictions regarding the detection limit, recently metagenomic approaches based on massively parallel sequencing techniques have promised to be a more sensitive valuable tool as molecular “catch all” method. Since it is technically possible to gain sequence information of all pathogens present in a particular sample, the most challenging task is to identify the sequences of interest in the bulk of sequence data obtained by only one sequencing run. In this presentation the benefits and drawbacks of next generation sequencing as diagnostic tool will be discussed in comparison to conventional methods of virus detection.

17:15 Searching for Viral Genomes in Melanoma Metastases by Whole-Transcriptome Sequencing and Digital Transcriptome Subtraction

Moritz Menzel, Ph.D., Postdoctoral Researcher, Dermatology,  University Hospital of TübingenSeveral viruses are known to cause cancer, such as human herpes virus 8 in Kaposi sarcoma and Merkel cell polyoma virus (MCPyV) in Merkel cell carcinoma. We investigated whether infection by known or yet unknown viruses may play a role in melanoma development as well. To detect viral sequences expressed in melanoma cells, we used whole-transcriptome sequencing and digital transcriptome subtraction to analyse melanoma metastases. None of the samples investigated harboured viral sequences, rendering it less likely that viruses are frequently involved in melanoma induction.



18:00 Keynote Introduction

Phillips Kuhl, President, Cambridge Healthtech Institute

18:05 Protein Engineering: Benefitting Therapeutic Proteins and Small Molecule Drugs Alike

Andres PlueckthonAndreas Plueckthun , Ph.D., Professor, Biochemical Institute, University of Zurich


18:40 'Systems Patientomics': The Future of Medicine

Hans Lehrach, Ph.D., Director & Head, Vertebrate Genomics, Max Planck Institute for Molecular Genetics

Ten years after the completion of the human genome in a ten year international collaboration at a cost of between 1 and 3 billion Dollar, we are now getting ready to be able to sequence genomes/ transcriptomes as part of routine medical practice in oncology. The flagship project IT Future of Medicine would extend this approach to generate integrated anatomical/molecular models of every patient in the healthcare system, as the basis for a data rich, computation intensive, individualized medicine of the future.


19:15 – 21:00 CHI Networking Dinner Reception

Day 1 | Day 2 | Download Brochure