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Genomic Medicine 2019 Nordic

November 12, 2019 - November 14, 2019

Genomic Medicine 2019 Nordic

Workshop: 12 November / Conference: 13 - 14 November

The sixth annual Genomic Medicine 2019 Nordic Conference took place on 13th & 14th November at the Kennedy Center at Rigshospitalet which is located in Glostrup, Greater Copenhagen.

The conference was organised in partnership with the Kennedy Centre at Rigshospitalet, Odense University Hospital and the Department of Clinical Genetics at Aarhus University Hospital.

There was a clinical NGS Data Analysis Workshop on 12th November led by our hospital partners that include the bioinformatics team at Odense University Hospital.  The workshop was aimed at the analysis of the data as well as the clinical interpretation of variants.

The conference itself followed our tried & tested scientific theme and focussed on the use of Genomics & Next Generation Sequencing (NGS) technologies and tools to look at human disease both in research as well as in a clinical setting.

The scientific theme covered advances in the following areas: Genomics, Next Generation Sequencing Applications and Workflows, Personalized Genomics, the Metagenomics link to health/disease, Non-invasive Prenatal testing (NIPT), Cancer and Rare Disease genetics as well as Data Analysis and Storage and many more emerging research applications and their translation into their clinic.

NETWORKING: in addition to the rich scientific program, Genomic Medicine 2019 Nordic allowed delegates to interact with each other during specific networking events.  In addition to the excellent science showcased at our events the networking events acted as a signature to our events because delegates got the opportunity to meet other scientists and attendees to the conference.  We hope delegates got the chance to leave the meeting with new contacts and friendships.

The networking opportunities included:

  • Introductory networking session on Day 1
  • Panel debate
  • Networking dinner at BOB Bistro in the city centre on the evening of 13th November


Who attended this event:

  • NGS users, group leaders, opinion leaders, researchers and students
  • Bioinformaticians
  • NHS & Private Labs, University labs, Biotech Companies, CRO’s, Service Providers etc

…and others interested in the latest developments of:

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


DAY 1 – 13th November

09.00 – 10.30: Registration, Coffee & Networking
10.30 – 11.00: Ed Quazi – Networking and Collaborations Workshop
  SESSION CHAIR: Prof Niels Tommerup
11.00 – 11.30: Prof Zeynep Tümer, Kennedy Centre at Rigshospitalet
Opening and Scientific Talk:  From genome to clinical care
11.30 – 12.00: Dr Valtteri Wirta, Karolinska Institute, Stockholm
Rare Disease: 5000 Diagnostic WGS sample milestone 
12.00 – 12.30: TECHNOLOGY PRESENTATION by Stephanie Wilbraham, PerkinElmer
Advances in Small RNA Sequencing 
12.30 – 13.30: Lunch, Exhibition, Networking
  SESSION CHAIR: Dr Eran Elhaik
13.30 – 14.00: Dr Lasse Vinner, Lundbeck Foundation GeoGenetics Center, University of Copenhagen
5000 ancient genomes from Euroasia
14.00 – 14.30: Prof Jens Michael Hertz, Odense University Hospital
Exome sequencing in inherited renal diseases
14.30 – 15.00: TECHNOLOGY PRESENTATION by Dr Ben Liesfeld, Limbus Medical Technologies  
The varvis® software platform: aggregating and sharing clinical evidence
15.00 – 15.30: Coffee, Exhibition & Networking
15.30 – 16.00: Prof Richard Rosenquist Brandell, Clinical Genetics, Karolinska Institute
Genomic Medicine Sweden – building a national infrastructure for precision medicine
16.00 – 16.30: Dr Rikke Katrine Jentoft Olsen, Aarhus University and Aarhus University Hospital
An integrated multi-omic approach for the identification of new disease genes in Multiple Acyl-CoA dehydrogenation deficiency
16.30 – 17.15: Audience Response/Voting on Genomics & Debate
Hosted by Dr Eran Elhaik (Lund University) & Dr Ed Quazi (Biotexcel)
Have your say and get feedback from other delegates!
You can do this anonymously or debate openly.
17.15 – 18.15: DRINKS RECEPTION sponsored by Oxford Nanopore Technologies

DAY 2 – 14th November

  SESSION CHAIR: Prof Zeynep Tümer
09.00 – 09.30: Dr Simon Rasmussen, Novo Nordisk Foundation Center for Protein Research, University of Copenhagen
Deep learning for metagenomics and multi-omics data
09.30 – 10.00: Prof Ole Winther, Applied Mathematics and Computer Science, DTU
Deciphering single cell gene expression with deep generative models 
10.00 – 10.30: TECHNOLOGY PRESENTATION by Marcus Strömberg & Nicole Grieder, Sophia Genetics
Integrating advanced data analysis and collaborative knowledge sharing
10.30 – 11.00: Coffee, Exhibition & Networking
11.00 – 11.30: Dr Lars Feuk, Uppsala University
Analysis of genetic variation using PacBio and Oxford Nanopore long-read sequencing
11.30 – 12.00: Dr Per Sikora, Clinical Genomics Gothenburg at SciLifeLab
Genomics Medicine Sweden Infrastructure and IT – Challenges and Opportunities
12.00 – 12.30: TECHNOLOGY PRESENTATION by Dr Klaus Tangsgaard, New England Biolabs
Enzymatic Methyl-Seq: Next Generation Methylomes
12.30 – 13.30: Lunch, Exhibition & Networking
  SESSION CHAIR: Prof Klaus Brusgaard
13.30 – 14.00: Prof Qihua Tan, University of Southern Denmark
Generalized measure of correlation in association analysis of omics data
14.00 – 14.30: Dr Markus Heidenblad, Clinical Genomics Lund
Large-scale clinical implementation of NGS/MPS in southern Sweden – opportunities and challenges in today’s and tomorrow’s diagnostic
14.30 – 15.00: TECHNOLOGY PRESENTATION by Dr Marie Just Mikkelsen, Samplix
Xdrop™ – Targeted Sequencing into the Dark and Unknown
15.00 – 15.30: Coffee, Exhibition & Networking
15.30 – 16.00: Dr Cathrine Jespersgaard, Danish National Genome Center
National Infrastructure for Precision Medicine
16.00 – 16.30: Dr Ditte Andersen, Odense University Hospital
Single cell RNA transcriptomics to delineate mechanism underlying cardiomyocyte binucleation during heart development
16.30 – 17.00: Dr Christina Westmose Yde, Rigshospitalet
Whole Genomic Sequencing in diagnostics

Led by the Bioinformatics team of Odense University Hospital (OUH)

The workshop covered the steps from acquisition of sequencing data to the generation of the bam- and vcf- files that was used in the subsequent filtering for variants. Variants were evaluated using various databases and prediction tools to establish potential pathogenic variants. Workshop delegates were given tutorials and examples and were expected to handle the data themselves on their own laptops.

The bioinformatics team consisted of the following teachers;
Marin Larsen, ass. Prof., PhD, molecular biologist, bioinformatician at OUH in charge of the clinical sequencing data acquisition.
Mark Burton, ass. Prof., PhD, molecular biologist, bioinformatician handling quantitative sequencing data and statistics
Lars Andersen, PhD-student, mathematician, handling various models requiring advanced computation.
Ieva Miceikaite, PHD Fellow at Department of Clinical GeneticsKlaus Brusgaard, assoc Prof., PhD, molecular biologist, evaluating genetic variants using various databases and prediction tools

VENUE:  The NGS Data Analysis workshop took place at the Kennedy Center.


09.00 – 09.30: Coffee & Registration
09.30 – 10.00: Introduction
10.00 – 10.30: Introduction to NGS
10.30 – 10.40: Introduction to Workshop
10.40 – 12.10: Data/GATK pipeline, 1
12.10 – 13.10: Lunch
13.10 – 13.50: Data/GATK pipeline, 2
13.50 – 15.20: Trio exom interpretation
15.20 – 15.40 Coffee Break
15.40 – 17.30: NGS Diagnostic Interpretation II

If you have any queries about the workshop, feel free to CONTACT US


PerkinElmer Applied Genomics
We are passionate about providing customers with an unmatched experience as they help solve critical issues especially impacting the diagnostics, discovery and analytical solutions markets.
Our innovative detection, imaging, informatics and service capabilities, combined with deep market knowledge and scientific expertise, help customers gain earlier and more accurate insights to improve lives and the world around us.
DIAGNOSTICS:  PerkinElmer offers instruments, reagents, assay platforms, and software to hospitals, medical labs, clinicians, and medical research professionals to help improve the health of our families.
DISCOVERY & ANALYTICAL SOLUTIONS:  PerkinElmer’s comprehensive portfolio of technologies helps life sciences researchers better understand diseases and develop treatments.
In today´s rapidly changing environment there is an increased need for both automation and flexibility. Many customers in research, clinical NGS and biotherapeutics have already benefited from our workflow solutions and now we are bringing our portfolio closer to you within our mobile lab. Inside, you’ll see the latest genomics and proteomics automation innovations designed to improve the efficiency of your workflows and increase your productivity.


Limbus Medical Technologies is a medical device manufacturer located at the Baltic Sea in Rostock, Germany, who provides software solutions for clinical genetics. We offer varvis™, a cloud-based genomics platform designed for clinical diagnostics. varvis™ is a complete solution for the entire NGS workflow, supporting automated NGS raw data processing, genomics data management, and variant interpretation. Our clinically validated CNV analysis is fully automated and completely integrated into the NGS workflow. It significantly increases the efficiency and diagnostic yield in clinical genetics.  Convenient filtering options such as inheritance filters allow you to filter from thousands of detected SNVs and CNVs to the most promising candidate variants. Our service offering also comprises first class support, validation, documentation and training. varvis™ is a CE approved medical device class I and compliant with EU regulations. For more information, visit www.varvis.com.


SOPHiA GENETICS helps healthcare professionals leverage their expertise and work together as a community, patients all over the world can receive equal access to better diagnoses and treatments. Combining the first two pillars of Data-Driven Medicine, Genomics and Radiomics, we can ensure that the data used to help patients today will also benefit the patients of tomorrow.


The BioNordika offering consists of products and services focused in the areas of Cell & Molecular Biology, including tools for next generation sequencing. BioNordika represents a unique combination of life science Premium Brands of products being stored, supported and marketed locally in the Nordic and Baltic countries.
New England BioLabs
 – Founded in the mid-1970s committed to developing innovative products for the life sciences industry, now a recognized world leader in the discovery, development and commercialization of recombinant and native enzymes for genomic research. The innovative NEBNext product line supports next generation sequencing with sample preparation tools that streamline workflows, minimize inputs, and improve library yields and quality. The new NEBNext® Ultra™ II RNA Library Prep kit allows you to generate high quality libraries even when you have only limited amounts of input RNA.


Oxford Nanopore Technologies has developed the world’s first nanopore DNA and RNA sequencing devices, which are scalable to your requirements. The MinION is a portable, real-time, long-read, low-cost device designed to bring easy biological analyses to anyone, anywhere, including resource-limited settings or remote environments. The GridION and PromethION devices serve users with larger projects or more samples. Delivering terabases of data, PromethION brings the benefits of long-read nanopore sequencing to large-scale population studies.
With nanopore sequencing devices, fully characterise human genetic variation by sequencing whole genomes, targeted regions or full-length RNA transcripts, from single cells to tissues. Long nanopore reads allow comprehensive analysis of structural variation, repetitive regions, haplotype phasing, RNA splice variants, isoforms, fusion transcripts and base modifications. Long sequencing reads enable resolution of challenging genomic regions and the delivery of more complete human genome assemblies. Experience streamlined, rapid end-to-end solutions with library preparation in as little as 10 minutes, and faster access to results with real-time analysis.
Oxford Nanopore Technologies products are currently for Research Use Only.

Samplix offers proprietary products for PCR-free targeted single molecule enrichment of genomic regions. Samplix’ technologies are based on advanced microfluidics which in a simple work process partitions millions of molecules in droplets thereby enabling high quality non-biased targeted enrichment of large fragments (>100 kb) for subsequent sequencing.


As the world’s leading provider of complete Sample to Insight solutions, QIAGEN serves more than 500,000 customers around the globe, all seeking valuable molecular insights encoded in the building blocks of life. We deliver a broad range of products and services—spanning sample technologies, assay technologies, and bioinformatics.



Robot and Laboratory automation from Beckman Coulter
Ramcon offers powerful and intelligent automation from Beckman Coulter that adapt to changing situations. From its easy-to-use, icon-driven software and available application methods to its enhanced work surface with interchangeable tools, Biomek robots are designed to help you streamline your workflow and automate your laboratory today and tomorrow.
We offer everything from total automation solutions to modular pipetting robots, designed to support your research or production within NGS, genomics, proteomics, cellular analysis, drug discovery and forensics.
Automated DNA, RNA, PCR and sequencing purification systems from Beckman Coulter
Automated purification systems from Beckman Coulter for purification of nucleic acids from cultured cells, whole blood, tissue, virus, fresh, frozen or fixed formalin, paraffin-embedded tissue and PCR products.

Agilent is a leader in life sciences, diagnostics and applied chemical markets. The company provides laboratories worldwide with instruments, services, consumables, applications and expertise, enabling customers to gain the insights they seek. Agilent’s expertise and trusted collaboration give them the highest confidence in our solutions.
From the Diagnostics and Research part, Agilent gives doctors a head start in the fight against cancer and other diseases. Our solutions help pathology laboratories deliver fast, accurate information to the doctors, hospitals and medical centers they serve. We help medical professionals make more accurate diagnoses so patients can receive the most effective therapies.
Most life sciences and diagnostics research is done at top-tier universities, with funding from governments around the world. Agilent is helping these researchers learn more about cancer, cardiovascular diseases, diabetes, Alzheimer’s, Parkinson’s, autism and other ailments. Our instruments, software and sample preparation solutions help scientists conduct faster, more accurate research.
Read about the Agilent products and solutions that serve these markets.
Discuss your laboratory needs with an Agilent expert.

BD is a global medical technology company that is advancing the world of health by improving medical discovery, diagnostics and the delivery of care. BD leads in patient and health care worker safety and the technologies that enable medical research and clinical laboratories. The company provides innovative solutions that help advance cellular studies and genomics, enhance the diagnosis of infectious disease and cancer, improve medication management, promote infection prevention, equip surgical and interventional procedures, optimize respiratory care and support the management of diabetes. The company partners with organizations around the world to address some of the most challenging global health issues. BD has more than 45,000 associates across 50 countries who work in close collaboration with customers and partners to help enhance outcomes, lower health care delivery costs, increase efficiencies, improve health care safety and expand access to health.

TATAA Biocenter is a Swedish provider of accredited contract research services, molecular biology reagents and consumables, and molecular analysis training.
Recently recognized as the best nucleic acid analysis service provider in Europe by Global Health & Pharma, we offer qPCR, ddPCR and NGS analyses, customized to your needs.
Our selection of reagents and consumables covers all stages of PCR and NGS applications from nucleic acid extraction to data analysis, as well as enzymes, inhibitors and small molecules, synthetic RNA and nucleotides, and gene editing tools. We offer all our customers expert support from our team of experienced scientists.
Lexogen is a transcriptomics and Next Generation Sequencing company, offering sample preparation protocols for transcriptome sequencing, tools for data analysis, and sequencing services.
The product portfolio includes kits for whole transcriptome, expression profiling, targeted and small RNA sequencing library preparation, full-length cDNA amplification, extraction of RNA, ribosomal RNA depletion, poly(A) RNA selection, spike-in RNA variant control mixes, metabolic RNA labeling, as well as RNA-Seq data analysis software.
Lexogen provides a fully integrated RNA-Seq service-workflows including sample preparation, multiplexed sequencing, data analysis, and report generation.
The Lexogen headquarters is based in Vienna, Austria, and we are represented by multiple distributors around the world. In Scandinavia Lexogen is represented by TATAA Biocenter.

Triolab AS is a professional sales organization, specialized in the import, marketing, sales, and technical support of IVD products. We have more than 25 years of experience in this field and are proud to offer an extensive product range covering a large variety of clinical diagnostic areas. Our skillful and highly committed personnel has a deep understanding of the market and our customers’​ needs, and they always meet our customers with an open mind, a friendly  attitude, and a strong desire to find the best possible solution for each individual customer. Quality is always in focus, and Triolab is certified according to ISO 9001:2015. Please visit www.triolab.dk for further information.

Empowering life sciences and diagnostics
Tecan is a leading global provider of automated laboratory instruments and solutions. Our systems and components help people working in clinical diagnostics, basic and translational research and drug discovery bring their science to life.
Always there for our clients
We work side by side with a range of clients, including diagnostic laboratories, pharmaceutical and biotechnology companies and university research centers. Our expertise extends to developing and manufacturing OEM instruments and components, marketed by our partner companies. Whatever the project – large or small, simple or complex – helping our clients to achieve their goals comes first.
Changing the way labs work, worldwide
We hold a leading position in all the sectors we work in and have changed the way things are done in research and development labs around the world. In diagnostics, for instance, we have raised the bar when it comes to the reproducibility and throughput of testing.
In under four decades Tecan has grown from a Swiss family business to a brand that is well established on the global stage of life sciences. From pioneering days to the leading role our business assumes today – empowering research, diagnostics and many applied markets around the world.

Integrated DNA Technologies, Inc. (IDT) develops, manufactures, and markets nucleic acid products that support the life sciences industry in the areas of academic and commercial research, agriculture, medical diagnostics, and pharmaceutical development. We have a global reach with personalized customer service.
IDT is recognized widely as the industry leader in the manufacture of custom oligonucleotides for molecular biology applications. We have developed proprietary technologies for genomics applications, such as Next Generation Sequencing, CRISPR genome editing, qPCR, and RNA interference. Through our GMP services, we manufacture products used in diagnostic tests for many forms of cancer and most inherited and infectious diseases.
We maintain our leadership position through a commitment to the highest standards of quality, service, and technical expertise, which allows us to adapt to the evolving needs of genomic science. We are continually improving IDT synthesis platforms, processing technology, automation, as well as our rapid prototyping and custom part production.
IDT serves our customers through direct sales in many countries and a network of distributors worldwide. Our corporate headquarters are located in Coralville, Iowa, USA. Production sites are located in Coralville, Iowa, and San Diego, California, USA; Leuven, Belgium; and Singapore.

Roche Sequencing Solutions (RSS) is building on Roche’s legacy of innovation to transform next-generation sequencing and its application. By simplifying workflows and expanding assay menus, we are broadening access to genomic data and lowering barriers to routine use.
Roche is dedicated to advancing personalized healthcare by creating diagnostics and treatments tailored to individual genetic and disease profiles. As part of this mission, Roche Sequencing Solutions is unifying next-generation sequencing with the goal of making it routine: Sample in, result out.
Our growing suite of products spans the genomics workflow, from sample acquisition and preparation through data analysis and final result, helping you answer important questions in genetics, cancer and beyond.

Devyser is specialized in the development, manufacture and sales of diagnostic kits for standardised genetic testing. Devyser’s product development focuses on simplifying and streamlining complex testing processes to improve throughput, reduce hands-on time and produce accurate and trusted results. Devyser. Results for life.

ACD – a Bio-Techne brand, shortens the path to personalized medicine and enables research, drug development and clinical applications by unlocking the power of RNA. Its technology overcomes critical hurdles in the identification, validation and contextualization of biomarkers for basic research and companion diagnostics.
ACD’s products and services are based on its proprietary RNAscope™ technology, the first multiplex fluorescent and chromogenic in situ hybridization platform, that detects and quantifies RNA biomarkers in situ at single molecule sensitivity. By allowing spatial mapping of RNA targets it allows researchers to understanding the context of gene expression. Through the interrogation of tissue samples with sequence specific probes users can spatially map and confirm scRNA-seq gene profiles at the single cell level in the tissue context, visualize the cellular heterogeneity of complex organs with multiplexing and spatial visualization and localize newly identified cell subtypes and cell markers.
RNAscope™ and BaseScope™ can be performed with 15,000+ off-the-shelf probes and custom probes. Also our Pharma Assay Services business allow customers to run assays for their custom projects rapidly. Since its first launch in 2011, the technology boasts 1200+ citations, a new publication each day now, for single, duplex and multiplex RNA analysis.


NimaGen delivers high quality products for Molecular Biology, with focus on Sanger and NGS sequencing. NimaGen is dedicated to deliver solutions that help advance life science applications for research and diagnostics. This year NimaGen will promote their Revolution in targeted NGS. Reverse Complement PCR; the safest, the fastest, the simplest Amplicon Resequencing Method Available. Providing a simultaneous target amplification and NGS indexing in 1step, closed tube assay.

X-omics (the Netherlands X-omics Initiative) is a National Roadmap Large-Scale Research Infrastructure, partially funded by NWO with a total budget of 40 million euro.
X-omics aims to establish a X-omics research infrastructure across the Netherlands, by combining technologies in the field of genomics, proteomics, metabolomics and data analysis, integration & stewardship.
Two major goals are:
1. Advance X-omics technologies far beyond state-of-art
2. Realize an integrated X-omics infrastructure
A central helpdesk has been created to provide access to the research infrastructure and enable both national and international researchers to use the newest X-omics technologies in their projects. Via this helpdesk researchers can get into contact with X-omics experts for advice on X-omics approaches.
A proof of principle of the X-omics approach will be provided by starting 3 demonstrator projects on different levels (cellular, individual and population).
During the project, training schools will be set up for new ‘omics’ users and for ‘omics’ practitioners.
To allow communications between the users of the infrastructure a X-omics community will be established. This community will interact via meetings, newsletters and social media.





Gamle Landevej 7
2600 Glostrup (Copenhagen)
Tel: + 45 43260100





The Kennedy Center is located in Glostrup in the outskirts of Copenhagen.  From Copenhagen central station (København H) you can take the S-Train B (S-Tog B) to Glostrup Station (Høje Taastrup direction) and the journey takes approximately 15 minutes.  Glostrup station is just 2 km from the Kennedy Center.
From Glostrup station you can then take bus number 149 which runs every 20 minutes and it will drop you off just 200 meters from the Kennedy Center – bus stop Gl. Landevej (Smedeland).  
Alternatively, bus 300S and 500S run more often and they will drop you 10 minute walk from the venue.

A taxi from Glostrup station should cost no more than 100 DKK and it will only take 5 minutes – depending on the traffic.

Useful links:
FOR BUSES:  https://www.rejseplanen.dk and https://dinoffentligetransport.dk
FOR TRAINS:  https://www.dsb.dk

Arriving at Copenhagen Airport:  you can take a train/metro to Copenhagen central station (København H) directly from the airport terminal. Trains between the airport and the central station run very often (roughly every 10 minutes), the journey time is around 30 minutes.  Once at Copenhagen central station you can follow the instructions above to reach the Kennedy Center.

Arriving at Copenhagen central station (København H): take the S-Train B (S-Tog B) to Glostrup station and then follow the instructions above to reach the Kennedy Center.
If you are travelling from other Danish cities (i.e. Odense, Aarhus etc.), it may be easier to stop at Høje Taastrup train station and then take the S-Train B to Glostrup (direction Copenhagen centre).  From Glostrup you can than take bus 149, 300S or 500S towards the Kennedy Center (see above for more details).
A taxi from Høje Taastrup Station should cost around 200 DKK as this is located 11 km from the Kennedy Center.

If travelling by car, there is ample free parking space around the Kennedy Center.


Accommodation is not included in the registration fee and delegates are responsible for arranging their own.  Below you can find some suggestions based on location.  Please note that Biotexcel does not have any association with the hotels and websites listed below.

As it only takes half an hour to reach the Kennedy Center from Copenhagen central station, you can opt to stay in the centre and take advantage of the many attractions that Copenhagen has to offer.  As you can imagine, there are plenty of hotels to choose from and you may find this website useful:  www.booking.com

If you prefer to stay close to the venue, there are a few hotels in the area.  Please see below:

Glostrup Park Hotel (https://www.parkhotel.dk/)
Scandic Glostrup (https://www.scandichotels.com/glostrup)
A-Hotels Glostrup (https://www.a-hotel.com/)


Genomic Medicine 2019 Nordic

Workshop – 12th November
Conference – 13th & 14th November

Kennedy Center





Gold Sponsors



Sophia Genetics





Silver Sponsors


Exhibitors & Sponsors
























November 12, 2019
November 14, 2019

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