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NGS 2014 Nordic

November 10, 2014 - November 11, 2014

NGS 2014 Nordic

20th November

NGS 2015 Nordic will take place at Medicon Village, Lund on 27th & 28th October
More details will be available soon…

This Next Generation Sequencing Symposium on 20th November 2014 is a one day event organized in partnership between Biotexcel and Odense University Hospital in Denmark.

This inaugural event will bring together key opinion leaders from laboratories in Nordic countries who are using Next Generation Sequencing in research and diagnostics. In laboratories around the world, NGS is being implemented for routine clinical multi-gene screening but also in newer emerging application areas such as transcriptomics and epigenetics. At this event speakers will present overview of their datasets in relation to NGS Panels, Exome Sequencing, Mitochondrial Sequencing as well as talking about newer application areas and established workflows. Labs will be able to compare and contrast the data coming from different NGS platform using different bioinformatic processes and also compare QC procedures.

As with previous Biotexcel events, networking will be emphasized and encouraged with organizers facilitating a cross-talk between all attendees so that new collaborations and technologies can be borne out of NGS Nordic 2014.


  • All NGS users, researchers and students
  • Bioinformaticians
  • NHS & Private Labs, Biotech Companies, CRO’s, Service Providers

…and all those interested in the latest developments of:

  • Bioinformatics
  • Biomarkers
  • Computational Biology
  • Data Analysis
  • Data interpretation
  • DNA Sequencing
  • Genetics/Genomics
  • Infectious and Inherited Diseases
  • Informatics
  • Molecular and Cell Biology
  • Molecular Diagnostics
  • Next Generation Sequencing



08.00 – 08.30: Registration and Networking
08.30 – 08.45: Opening by Prof Torben Kruse, Head of Research, Department of Clinical Genetics, Odense University Hospital
08.45 – 09.05: Prof Klaus Brusgaard, Clinical Genetics, Odense University Hospital Problems and pitfalls interpreting NGS results
09.05 – 09.30 Prof Niels Tommerup, Director, Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine (ICMM), University of Copenhagen Saturation mapping of the human genome with constitutional chromosomal breakpoints
09.30 – 10.00: Coffee Break, Exhibition & Networking
10.00 – 10.20: TECHNOLOGY WORKSHOP by Dr Ermias Melles, Life Technologies Application of Ion Torrent™ semiconductor sequencing in clinical, plant and microbial research
10.20 – 10.45: Dr Morten Dunø, Molecular Genetic Laboratory, Rigshospitalet, Copenhagen Application of NGS in clinical diagnostics; same same, but very different
10.45 – 11.05: Darren Grafham, Head of laboratory services, Sheffield Childrens NHS Foundation Trust, UK Establishing NGS in the NHS
11.05 – 11.35: TECHNOLOGY WORKSHOP by Dr Louisa Ludbrook, Horizon Diagnostics, Cambridge, UKUnderstanding the Specificity and Sensitivity of Next Generation Sequencing Workflows: The Importance of HDx™ Reference Standards
11.35 – 12.00: Prof Zeynep Tümer, Human Molecular Genetics, Rigshospitalet, University of Copenhagen NGS practice in a department of applied human genetics
12.00 – 13.00: Lunch, Exhibition and Networking
13.00 – 13.25: Prof Anders Molven, Clinical Medicine, University of Bergen, Norway NGS in diabetes diagnostics and research: many successes and some frustrations
13.25 – 13.45: TECHNOLOGY WORKSHOP by Dr Luc Smink, Illumina Illumina Next Generation Sequencing for Clinical Applications
13.45 – 14.10: Prof Rikke Steensbjerre Møller, Danish Epilepsy Centre, Dianalund, Denmark NGS based diagnostics in 120 patients with epileptic encephalopathies
14.10 – 14.35: Dr Lars Jønson, Genomic Medicine, Rigshospitalet, Copenhagen Genomic profiling of cancer patients in phase 1 trial – Personalized Medicine
14.35 – 15.05: Coffee Break, Exhibition & Networking
15.05 – 15.20: TECHNOLOGY WORKSHOP by Dr Manuela Saathoff, Diagenode, Belgium Mastering ChIP-sequencing (ChIP-seq)
15.20 – 15.45: Dr João Fadista, Lund University Diabetes Centre, CRC, Malmö University Hospital Transcription regulation in human pancreatic islets using RNA sequencing
15.45 – 16.00: Closing Remarks
16.00: NETWORKING EVENT – this event will take place straight after the Symposium at 4 pm and will last no more than 2 hours: there will be a guided tour of the Odense University Hospital Genetic Services unit followed by a networking event with drinks & light snacks at Amplexa Genetics headquarters. Amplexa Genetics is our Gold Sponsor for this event.

The maximum number of people for the networking event is 25… so book early to avoid disappointment!

*Please note: the agenda may be subject to change


Prof Anders Molven

Clinical Medicine, University of Bergen, Norway

Dr Morten Dunø

Molecular Genetic Laboratory, Rigshospitalet, Copenhagen

Prof Zeynep Tümer

Human Molecular Genetics, Rigshospitalet, University of Copenhagen

Prof Rikke Steensbjerre Møller

Danish Epilepsy Centre (Epilepsihospitalet), Dianalund, Denmark

Darren Grafham

Head of laboratory services, Sheffield Childrens NHS Foundation Trust, UK

Dr Lars Jønson

Genomic Medicine, Rigshospitalet, Copenhagen

Prof Klaus Brusgaard

Clinical Genetics, Odense University Hospital


logoamplexa_233x78-3Amplexa Genetics A/S was founded in 2006 and is an expert in efficient molecular genetic testing. The company consists of experienced researchers equipped with the latest technologies who provide their expertise to the genetic health care sector. Klaus Brusgaard, Co-Director and Co-Founder of Amplexa Genetics, has a PhD in Molecular Genetics and since 1997 he has worked as a Clinical Geneticist at Odense University Hospital and Odense University where he is now Professor of Bioinformatics & Clinical Genetics. Since the beginning Amplexa Genetics has provided a wide range of traditional molecular genetic tests using Sanger sequencing. For the last three years this service has been expanded to also include Next Generation Sequencing panels to physicians in the public health care sector and private clinics. A genetic counseling service is offered if required. The service is reliable and cost effective with the highest standards of quality. Amplexa Genetics is participating in the European Molecular Genetics Quality Network (EMQN) 2008 – 2012 quality assessment schemes for mutation scanning and sequencing (External Quality Assessment – EQA). Amplexa is the National Danish NGS Screening Centre for molecular genetic analysis in Epilepsy”.


sophia_logo_10241Sophia Genetics, a European leader in Data Driven Medicine, brings together expertise in clinical genetics, bioinformatics, machine learning, and genomic privacy. Based in Switzerland, we are known for our high medical standards and Swiss precision when it comes to accuracy and quality management. Sophia Genetics offers health professionals who perform clinical genetic testing bioinformatics analysis, quality assurance, and secure banking of patient DNA sequence data generated by NGS. Sophia Genetics helps clinical laboratories to reduce the cost, overcome complexity and fulfill quality constraints related to the use of NGS in the clinic.


horizon-logo-cmyk-small-3Horizon Diagnostics (HDx), a business unit of Horizon Discovery Ltd, is a leading provider of genetically defined, human genomic reference standards, including FFPE cell line sections and purified gDNA. These standards offer a sustainable source of reference material to laboratories, proficiency schemes and manufacturers, providing an unprecedented level of control. Genotypic tumor profiling is becoming increasingly routine in the battle against cancer, and next generation sequencing (NGS) is offering a way to quickly and affordably establish baseline tumor genetics. Platforms such as MiSeq™ and Ion Torrent™ are increasingly used to interrogate tumors using pre-defined cancer panels such as Ampliseq™ or Truseq™. The range of steps involved in a NGS workflow, combined with the sheer number of biomarkers being screened, has the potential to create unprecedented levels of variability. In order to generate results with confidence, it is therefore important to manage potential workflow variability from sample extraction and sample selection through to sequencing and variant calling. In response to the growing number of scientists using NGS instruments to study tumor genetics, Horizon Diagnostics has developed a range of Quantitative Multiplex Reference Standards for general use. These highly defined reference standard contain engineered endogenous mutations, each calibrated by digital PCR to a chosen allelic frequency ranging between 0.5% and 25%.

kementecKem-En-Tec was founded in 1987 by a team of Danish scientists from the Protein Laboratory at the University of Copenhagen. Kem-En-Tec Nordic is a strong and reliable partner and our success is based on reliability, high service level, flexibility and a high technological knowledge and support. We consider ourselves your service partner more than an “over the desk” supplier. Kem-En-Tec’s fundamental concept is to apply, offer and support the ideas and results of research & development by representing new and better quality products, ensuring improved results and more efficient use of resources for our customers. Our trained scientific staff isn’t hidden behind a call center, and we take pride in the fact that you will quickly receive a qualified reply – also if you choose to contact us by E-mail. Our services include extensive pre- as well as post selling support. Currently Kem-En-Tec repressent a platform of products from more than 100 companies in the field of Protein Technology, Molecular Biology, Cellularbiology, Diagnostics and Environmental studies.Focus Areas:

  • IMAGING – Western blots + Gel documentation.
  • DETECTION – Luminometers, readers and microplate washers
  • NGS – Adaptors/index, Library prep & quantification
  • ELISA – Reagents and liquid handling equipment.
  • ENVIRONMENTAL – Fluorometers and sensors.
  • EQUIPMENT – Centrifuges, Rotators, Heating/Cooling blocks.
  • MOLECULAR BIOLOGY – Purification and Reagents.
  • PCR and qPCR – Polymerases, Probes and Primers.
  • Diagnostics – Elisa, qPCR and NGS based
  • Glycobiology


life-tec-small2Life Technologies™ products harness the power of science to transform lives. As a member of the Thermo Fisher Scientific family of brands, our instruments, everyday tools, and services offer high-quality, innovative life science solutions for every lab and application. Go to lifetechnologies.com to learn more.

highres_logo_cmyk_newAt Illumina, our goal is to apply innovative sequencing and array technologies to the analysis of genetic variation and function, making studies possible that were not even imaginable just a few years ago. These studies will help make the realization of personalized medicine possible. With such rapid advances in technology taking place, it is mission critical to have solutions that are not only innovative, but flexible, scalable, and complete with industry-leading support and service. As a global company that places high value on collaborative interactions, rapid delivery of solutions, and prioritizing the needs of its customers, we strive to meet this challenge. Illumina’s innovative sequencing and array-based solutions for genomic analysis serve as tools for disease research, drug discovery, and the development of molecular tests in clinical labs. Leading-edge products and services Illumina has developed a comprehensive line of products that address the scale of experimentation and the breadth of functional analysis required to achieve the goals of molecular medicine. Our offering includes leading-edge solutions for:

  • SNP genotyping
  • Copy number variation
  • Genome sequencing
  • DNA methylation studies
  • Transcriptome analysis
  • Gene expression profiling

Our products and services are used by a broad range of academic, government, pharmaceutical, biotechnology, and other leading institutions around the globe. Further information can be found at www.illumina.com

diagnodeDiagenode Corporation is a global Epigenetic company and Diagnostics assay manufacturer based in Liège, Belgaum and Denville, NJ, USA. Diagenode offers the most comprehensive range of Epigenetic products in the world, amongst its product portfolio are the famous Bioruptor® Shearing devices, Premium® and Blueprint® antibodies, IP-Star® automated workstations and many reagents. From Diagenode’s founding in 2003 in Liège as a local Biotechnology startup, the company has expanded rapidly. Diagenode has opened its US branch in 2006 and developed a distribution and partnering network across the entire world with strong anchorages in Japan and other Asia-Pacific countries. Diagenode has been profitable since its creation. The company planned to develop extensively its range of innovative products in both the Epigenetics and Infectious diseases markets. In October 2013, Diagenode’s headquarters have moved into a brand new facility near to the Univeristy of Liège’s campus.

triolabTriolab is a professional sales company founded in 1991. Triolab sells in vitro diagnostic equipment to the healthcare sector and we provide products and services for POC coagulation, hematology, microbiology, molecular diagnostics, clinical biochemistry, disease-specific analyzes, transfusion medical analyzes and for the preanalytical phase. Triolab represents many of the most successful European and American manufacturers of in vitro diagnostic. Most of our suppliers are ISO certified, and they deliver all products of recognized quality. In the field of molecular diagnostics, Triolab can offer both reagents, controls and instruments for diagnostic use and research. From different suppliers we can offer PCR kits and real-time PCR kits for the diagnostics of infectious and respiratory diseases, both as multiplex panels and singleplex. We have both low and high throughput instruments for real-time PCR and automated DNA purification. From leading suppliers Triolab offers different mutation analysis kits (B-RAF, K-Ras, BCR-ABL, ALK), as well as ELISA kits for the monitoring of anti-TNF-α. In the field of Next Generation Sequencing we offer kit for oncogenetics, humangenetics and kit for gene translocation analyses and gene clonality analyses for the detection of leukaemia and lymphoma for the most common NGS platforms.

covarisCovaris is the recognized industry leader for DNA fragmentation and Adaptive Focused Acoustics (AFA®) has become the gold standard for shearing DNA and RNA in Next-Generation Sequencing applications. Without introducing GC bias or thermal-induced damage, users can precisely and accurately fragment DNA and RNA to the 100-1500bp range with the microTUBE™, 2-5kb range with the miniTUBE™, and 6-20kb range with the g-TUBE™. Building on the superior capabilities of AFA, Covaris has developed truXTRAC™, which efficiently extracts nucleic acids from FFPE tissues. The highly simplified workflow ensures high yield extraction of nucleic acids and allows for the seamless integration into NGS and other molecular applications. By using AFA technology on Covaris instruments, scientists can achieve better amplificability of released nucleic acids in single and multi-sample formats. Additionally, the truChIP™ Chromatin Shearing Kits provide an optimized, flexible, and universal protocol for chromatin shearing on the high performance Focused-ultrasonicators, thus enabling the inclusion of truChIP Chromatin Shearing into any ChIP Protocol. The truXTRAC and truChIP kits bring the advantages of AFA and Focused-ultrasonication directly to the lab with increased sensitivity and reproducibility. With an installed base of more than 3,500 systems worldwide, the Covaris AFA process is extensively cited in peer-reviewed research articles on DNA fragmentation using all available NGS systems and is considered to be the gold standard for DNA shearing. Covaris Focused-ultrasonicators are recommended by all major sequencing platform providers, and are used by leading Genome Centers worldwide including: the Centre National de Génotypage (CNG), the Wellcome Trust Sanger Institute, the Broad Institute, and the Beijing Genomics Institute (BGI). For more information, please visit: www.covarisinc.com

5feb2013_optie01b-2-300x160Genome Diagnostics Nijmegen is an ISO 15189:2012 certified laboratory, which provides high quality and up to date diagnostics of genetic disorders for patients and their families. The laboratory is equipped with the latest technologies to perform various types of diagnostic services. In all the diagnostic services offered, a full diagnostic interpretation of clinically relevant variants is included. The laboratory has over 130 coworkers and performs >25.000 tests and >4000 diagnostic exomes each year. Genome Diagnostics Nijmegen is part of the Department of Human Genetics of the Radboud university medical center and is based in the Netherlands. For information; www.genomediagnosticsnijmegen.nl.

NGS 2014 Nordic

Conference: 20th November

Emil Aarestrup Auditorium Klinikbygningen, Odense University

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