The fourth annual Genomic Medicine 2017 Nordic Conference (following on from NGS 2016 Nordic) took place at Medicon Village in Lund on 8th & 9th November and was organised in partnership with the Kennedy Centre at Rigshospitalet, Odense University Hospital, the Department of Clinical Genetics at Aarhus University Hospital, Lund Cancer Centre & the Department of Clinical Genetics in Lund.
This year we also had a clinical NGS Data Analysis Workshop on 7th November at Lund University. This was led by our partners Genome Diagnostics Nijmegen.
The conference, focussed on the use of Genomics & Next Generation Sequencing (NGS) technologies and tools to look at human disease whether in research or clinical setting.
We covered 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.
NETWORKING: in addition to the scientific program, Genomic Medicine 2017 Nordic allowed delegates to interact with each other during networking events. These networking opportunities included:
Who attended this event:
…and others interested in the latest developments of:
|09.00 – 10.30:||Registration, Coffee & Networking|
|10.30 – 11.00:||Ed Quazi – Networking and Collaborations Workshop|
|SESSION CHAIR: Dr Tord Jonson (Lund University)
|11.00 – 11.30:||Prof Pål Møller, Medical Genetics, Oslo University Hospital
How to identify disease-causing genetic variants: past, present and future
|11.30 – 12.00:||Prof Thomas Werge, iPsych, University of Copenhagen
Genomics Medicine in Psychiatry – Leveraging the Danish Genealogy, nationwide biobanks and population-based electronic health records
|12.00 – 12.30:||TECHNOLOGY PRESENTATION by Dr Steve Glavas, 10x Genomics
Linked-Reads and Single Cell Gene Expression for Improved Genomics
|12.30 – 13.30:||Lunch, Exhibition, Networking|
|SESSION CHAIR: Dr Anna Lindstrand (Karolinska Institutet, Stockholm)
|13.30 – 14.00:||Prof Päivi Peltomäki, Medical and Clinical Genetics, University of Helsinki
Next-generation sequencing to dissect colon cancer susceptibility
|14.00 – 14.30:||Prof David Gisselsson Nord, Lund University & Skåne Region
A geography of clones: mapping the tumour genome over anatomic space in children with cancer
|14.30 – 15.00:||TECHNOLOGY PRESENTATION by Dr Bjoern Textor, New England Biolabs
Novel sample preparation approaches for translational genomics
|15.00 – 15.30:||Coffee, Exhibition & Networking|
|15.30 – 16.00:||Prof Uffe Birk Jensen, Clinical Genetics, Aarhus University
NGS in neurogenetic disorders: Major improvements and challenges
|16.00 – 16.30:||Dr Tord Jonson & Dr Paul Piccinelli, Clinical Genetics & Pathology, Lund University
Increasing diagnostic yield from genomic array and exome sequencing by extracting the added information hidden in the SNPs
|16.30 – 17.30:||PANEL DEBATE: Would you sequence your genome and publish the data? And other topical Issues from the morning
Host: Ed Quazi (Biotexcel)
Panellists: Massimiliano Gentile (Blueprint), Pål Møller (Oslo Uni Hospital), David Gisselsson Nord (Lund Uni), Hans Ehrencrona (Lund Uni), Zeynep Tümer (Rigshospitalet)
|18.00:||DRINKS RECEPTION sponsored by Centogene after a short 10 minute talk on:
Trends in Genetic Sequencing within Clinical settings – A Centogene Perspective
by Shivendra Kishore, PhD (SVP)
|19.00:||NETWORKING DINNER (booking required)|
|SESSION CHAIR: Dr Klaus Brusgaard (Odense University Hospital)
|09.00 – 09.30:||Dr Anna Lindstrand, Karolinska Institutet
Utilizing whole genome sequencing for the detection and characterization of chromosomal rearrangements.
|09.30 – 10.00:||Dr Erik-Jan Kamsteeg, Genome Diagnostics Nijmegen
Clinical Exome Sequencing as the first tier test
|10.00 – 10.30:||TECHNOLOGY PRESENTATION by Dr Klaus Tangsgaard Nielsen, Kem-En-Tec
Accurate Large Fragment NGS Library Analysis Using Capillary Electrophoresis
|10.30 – 11.00:||Coffee, Exhibition & Networking|
|11.00 – 11.30:||Prof Brage Storstein Andresen, University of Southern Denmark
NGS-CLIP mapping of splicing regulatory sites enables design of therapeutic Splice Switching Oligonucleotides (SSOs)
|11.30 – 12.00:||Dr Malin Melin, Head of Facility, Science for Life Laboratory, Uppsala
Clinical genomics in Uppsala – from development to implementation
|12.00 – 12.30:||TECHNOLOGY PRESENTATION by Dr Jun Song, BioDynami
New generation 1-hour NGS library preparation technology with only minutes of hands-on time
|12.30 – 13.30:||Lunch, Exhibition & Networking|
|SESSION CHAIR: Prof Zeynep Tumer (Rigshospitalet, Copenhagen)
|13.30 – 14.00:||Prof Estrid Høgdall, Herlev Hospital, Denmark
The use of Next Generation Sequencing in a Clinical Pathology laboratory
|14.00 – 14.30:||Dr Mani Arumugam, University of Copenhagen
Towards affordable diagnosis based on human gut microbiome: colorectal cancer as a case study
|14.30 – 15.00:||TECHNOLOGY PRESENTATION by Chris Allen, Thermo Fisher Scientific
NGS solutions towards precision medicine
|15.00 – 15.30:||Coffee, Exhibition & Networking|
|15.30 – 16.00:||Dr Simon Rasmussen, Technical University of Denmark & UC Berkeley
Population wide de novo assembly in the Genome Denmark project
|16.00 – 16.30:||Dr Anders Johannes Hansen, Natural History Museum of Denmark,
Methods of virome dection and discovery using NGS
|16.30 – 17.00:||Dr Hans Ehrencrona, Department of Clinical Genetics, Lund
The SWEA study – five years experience of nation-wide gene panel testing for hereditary breast cancer predisposition in Sweden
During the workshop the attendees used real patient data which must be deleted at the end of the workshop. Your registration to this event provides your agreement that you will abide with this condition and comply appropriately.
The course was intended for people who are not too experienced in data-analysis but have already some knowledge about NGS.
The course started by providing a good overview of the raw sequencing data, an explanation about the formats and how delegates can check the quality of the data. Following on from this and during the NGS Diagnostics interpretation sections delegates learnt how to work with the analyzed data, how to interpret the data and how to prioritize the variants to look for the interesting ones.
At the conclusion of the course, delegates were asked to solve diagnostic patient cases by searching for the pathogenic variant(s).
Presenters – Maartje van de Vorst and Jordi Corominas Galbany
|09.30 – 10.00:||Coffee & Registration – Belfragesalen Room D1539a|
|10.00 – 10.10:||Introduction|
|10.10 – 10.30:||Introduction to NGS|
|10.30 – 10.40:||Introduction to Workshop|
|10.40 – 12.10:||NGS Basics|
|12.10 – 13.10:||Lunch|
|13.10 – 14.40:||NGS Diagnostic Interpretation I|
|14.40 – 15.00:||Tea & Coffee|
|15.00 –16.30:||NGS Diagnostic Interpretation II|
Belfrage Lecture Hall
Biomedical Center (BMC)
entrance at Klinikgatan 32
222 42 Lund
BMC Reception – Tel: +46 46-222 06 60
The lecture hall is on the top floor as it can be seen in the picture.
If you have any queries about the workshop, feel free to CONTACT US
10x Genomics meets the critical need for long range, structural and cellular information, with an innovative system that transforms short-read sequencing technologies. Our Chromium™ System supports comprehensive genomics and high-throughput single cell transcriptomics. It enables researchers to discover previously inaccessible genomic information at unprecedented scale, including phased structural variants, phased single nucleotide variants, and dynamic gene expression of individual cells – while leveraging their existing sequencing systems and workflows.
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.
Kem-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.
The purpose for Leymus Genomics is to deliver the highest quality, easy-to-use, fastest and most innovative genomic products for analysis of your samples. This includes Europe’s finest sample running service and data storage. Solutions includes PCR and NGS wetlab products, and we also supply and support data storage. We believe the solutions should be supported by staff who have worked in the genomic tools industry and who should be continuously in dialogue and updated by scientists. We rely on continuous dialogue with scientists to give us input on which technologies work, and which part of the process we should look for additional partners to bring you the right solution.
We deliver products and services for Finland, Sweden, Norway, Iceland and Denmark.
DDN: Fastest Large scale on site data storage (Mainly to HiSeqs or NovaSeqs), 2/3’rds of worlds super computers run on DDN. Sanger inst. Run on DDN
BioDynami: Fastest NGS library prep in the world. 1 hour prep, 7 minutes hands on.
GenomeScan: ISO certified NGS lab. Illumina platfoms, PacBio, Ion Torrent, 10X. From sample to bioinformatic report.
SensoQuest: German made and produced. Fast, easy, reliable and precise PCR cycler
How we work and our philosophy: Our expertise is relating to technologies used for NGS and Large Scale Genomic Data storage and with NGS outsourcing we work with GenomeScan. We have spent a lot of time identifying the best partners. We have learned from scientists, MD’s and collaborators, which products are best in their class and improves your applications.
Thermo Fisher Scientific is the world leader in serving science. Our mission is to enable our customers to make the world healthier, cleaner and safer. Through our Thermo Scientific, Applied Biosystems and Invitrogen brands, we offer an unmatched combination of innovative technologies, purchasing convenience and support.
Transforming genetic data into medical decisions. We are the worldwide leader in the field of early genetic diagnostics for rare hereditary diseases. A database of genetic data from over 110 countries gives us a unique access to epidemiological, clinical and genetic information on hereditary disorders, including oncogenetic indications. We focus exclusively on providing the highest quality, patient-centred service, verified by multiple international accreditations (ISO, CAP, CLIA), regular pharmaceutical audits and our outstanding short turn-around times for analysis. Our medical expertise is based on cutting-edge technologies including whole exome/genome sequencing, innovative biomarkers and continued R&D. Our mutation database (CentoMD®) is the world’s largest for rare genetic diseases and is pivotal to our high-quality diagnostic reporting and comprehensive medical interpretation. CENTOGENE is a key partner for many high-profile pharmaceutical companies who are active in the orphan drug development.
Blueprint Genetics is a genetic diagnostic company that provides comprehensive genetics testing for all medical specialties. Our innovative technologies in human rare diseases enable improved tests with higher quality, lower cost and faster lead time. We offer full transparency to our technology, quality and performance, and analytic validations of our technologies. Our expert team of geneticists and clinicians together with our AI powered CLINT technology provide top quality clinical interpretation and reports, changing the standards of molecular diagnostics. We are accredited by ISO 15189 and CAP (#9257331), and certified by CLIA (#99D2092375). For more information, visit www.blueprintgenetics.com.
Global leader in Data-Driven Medicine, SOPHiA GENETICS is a healthtech company which has developed SOPHiA AI, the most advanced technology for clinical genomics, helping healthcare professionals better diagnose and treat patients.
The global network of over 300 institutions from 50 countries that use the SOPHiA DDM® analytical platform powered by SOPHiA form the world’s largest clinical genomics community.
By enabling the rapid adoption of genomic testing worldwide, turning data into actionable clinical insights, and sharing knowledge through its community, SOPHiA GENETICS is democratizing Data-Driven Medicine to help save lives.
Founded in 1990, GATC Biotech has established itself as a leader in DNA and RNA sequencing. More than 10,000 researchers worldwide rely on the company’s services for processing any number of samples from any kind of starting material. GATC Biotech offers all leading sequencing technologies in its own laboratories. The company’s proprietary workflows deliver ready-for-diagnostics results backed by ISO17025 certification and ISO13485 accreditation. From Sanger to next generation sequencing, GATC Biotech offers unmatched flexibility to customers interested in any kind of genomics such as transcriptome, microbiome, epigenome, exome or whole genome analysis. The company offers a large portfolio of oncology-related products, such as the world’s most comprehensive liquid biopsy service line, GATCLIQUID. The liquid biopsy-based assays offer whole exome sequencing of cell-free DNA, targeted panel sequencing of more than 600 genomic regions or ultra-sensitive monitoring of the most important mutation in a particular case. All services are also available for FFPE samples. GATC Biotech remains committed to offering the highest quality data to help advance the field of personalised medicine.
Founded 1975 Techtum has provided laboratories with innovative instruments and consumables. Techtum is especially appreciated for its skilled staff, fast personal contacts, trusted support and service also after purchase. Our goal is to offer our customers innovative / smart / cost effective products to help in research and diagnostics. Our focus areas: Easy to use robots for NGS library preparation. True Digital PCR system – leading RainDrop platform for liquid biopsy and for creating more uniform NGS libraries. Smarter kits for NGS library preparation, cancer panels and cell freezing media etc. Accurate measuring concentrations of dsDNA/ssDNA/RNA/Proteins/cells – DropSense16/96. Safe sample storage for biobanks incl tubes, scanners, software and cappers/decappers.
Eppendorf is a leading life science company that develops and sells instruments, consumables and services for liquid handling, sample handling and cell handling in laboratories worldwide. Its product range includes pipettes and automated pipetting systems, dispensers, centrifuges, mixers, spectrometers and DNA amplification equipment as well as ultra-low temperature freezers, fermentors, bioreactors, CO2 incubators, shakers and cell manipulation systems. Consumables such as pipette tips, test tubes, microliter plates, and disposable bioreactors complement the range of highest-quality premium products. Eppendorf offers a broad range of high quality, smart consumables and precise instruments to perform all steps upstream of the sequencing itself: from sample generation and storage via sample preparation/purification, library preparation, and quantification to PCR amplification. Eppendorf products are most broadly used in academic and commercial research laboratories, e.g., in companies from the pharmaceutical and biotechnological as well as the chemical and food industries. They are also aimed at clinical and environmental analysis laboratories, forensics and at industrial laboratories performing process analysis, production and quality assurance. Eppendorf was founded in Hamburg, Germany in 1945 and has about 2,930 employees worldwide. The company has subsidiaries in 25 countries and is represented in all other markets by distributors. www.eppendorf.com
PerkinElmer is focused on improving the health and safety of people and their environment. Our innovative and integrated detection, imaging, software, reagents and services solutions are accelerating discovery in core areas of research including genomics. From DNA to data, PerkinElmer understands your underlying science in every part of your workflow to help you analyse nucleic acids efficiently, at the lowest price per sample. Through our chemagen Technology platform PerkinElmer provides high-quality automated nucleic acid isolation research solutions incorporating highest sample volume flexibility and high throughput capability on just one instrument. PerkinElmer also provides a complete portfolio of NGS library prep and multiplexing kits designed to increase the sensitivity, flexibility and speed of library prep for the Illumina® and Ion Torrent™ Our innovative microfluidics technology delivers unparalleled electrophoresis separation for high-sensitivity DNA/RNA analysis, DNA smear analysis, and RNA and gDNA integrity analysis. Our next-generation sequencing library preparation workstations eliminate the processing bottlenecks presented by today’s sequencing technologies. Furthermore our genome analysis solutions suite leverages a proprietary, easy-to-use interface for interactive filtering and visualization to enhance data analysis from large genomic studies.
Triolab is a professional sales company founded in 1986. Triolab sells in vitro diagnostic equipment to the healthcare sector and we provide products and services for POC coagulation, haematology, microbiology, molecular diagnostics, clinical biochemistry, disease-specific analyses, transfusion medical analyses 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 single plex. 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, ctEGFR), as well as ELISA kits for the monitoring of anti-TNF-α. In the field of Next Generation Sequencing we offer kits for oncogenetics, human genetics (eg. NIPT and familiar hypercholesterolemia) and kits for gene translocation analyses and gene clonality analyses for the detection of leukaemia and lymphoma for the most common NGS platforms.
Beckman Coulter Life Sciences is dedicated to developing and providing advanced technologies and equipment for research and discovery to explore new treatment methods. Our products include Particle Counting and Characterization, Centrifugation, Flow Cytometry, Liquid Handling and Genomic solutions which are implemented in all major areas of Life Sciences such as biology, biochemistry, biophysics, nanotechnology and molecular biology to simplify and automate existing processes in the lab.
Our vision: Advancing science through discovery – Our mission: Delivering innovative and trusted scientific solutions across the globe
For more information please visit www.beckman.com
RAMCON A/S is a focused distributor, established in 1988. Today it is a modern company with offices in Copenhagen, Vejle and Gothenburg and with 41 employees in sales, support and service. We focus on these three core areas, and we target the Industrial, Medical, Chemical and Life Science market in the Scandinavian countries. RAMCON’s mission is to combine global products and expertise with local knowledge to ensure that our customers get better results faster. Since the start we have been distributor for Beckman Coulter, with sale, application support and service within LS Automation, NGS, Genomics, Flowcytomerty, Centrifugation and Particle Characterization.
Illumina and Integrated DNA Technologies (IDT) have partnered on NGS multiplexing and exome enrichment.
Illumina is a global company with a vision to be the leading provider of integrated solutions that advance the understanding of genetics and health. Our goal is to improve human health by enabling our customers to accelerate the collection, analysis, and application of biological information.
IDT provides synthetic nucleic acid products and related services, including but not limited to: DNA, RNA, gBlocks, custom gene synthesis, qPCR, Next generation sequencing, and CRISPR products. We became the industry leader in this competitive field by maintaining the highest standards of quality, service, and technical know-how.
Roche is a global pioneer in pharmaceuticals and diagnostics focused on advancing science to improve people’s lives. The combined strengths of pharmaceuticals and diagnostics under one roof have made Roche the leader in personalized healthcare – a strategy that aims to fit the right treatment to each patient in the best way possible.
The Roche Group, headquartered in Basel, Switzerland, is the world’s largest biotech company active in over 100 countries with more than 94,000 employees worldwide. In 2016, Roche invested CHF 9.9 billion in R&D and posted sales of CHF 50.6 billion. For more information, please visit www.roche.com.
QIAGEN serves more than 500,000 customers around the globe, all seeking insights from the building blocks of life – DNA, RNA and proteins.
We deliver Sample to Insight solutions for molecular testing, propelling QIAGEN customers from start to finish to unlock new insights.
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 healthcare worker safety and the technologies that enable medical research and clinical laboratories. The company provides innovative solutions that help advance medical research and genomics, enhance the diagnosis of infectious disease and cancer, improve medication management, promote infection prevention, equip surgical and interventional procedures and support the management of diabetes.
TATAA Biocenter was founded in 2001 by pioneers in qPCR, and have extensive knowledge and hands-on experience within nucleic acid analysis. TATAA Biocenter offers a full range of RT-qPCR and Next-Generation Sequencing research services, and develops and performs a broad spectrum of hands-on courses world-wide. TATAA also offers a carefully chosen selection of high-quality products for qPCR and NGS applications. We are proud to provide expert support from our local specialists in Göteborg, from sample preparation to final result. Don’t hesitate to get in touch with us to discuss your product or project requests.
HOW TO GET TO RESTAURANT & CAFE INSPIRA at THE MEDICON VILLAGE
Auditorium Hörsalen & Café Inspira
223 81 Lund
Tel: +46 46 275 60 00
The Medicon Village is conveniently located close to Lund city centre and can be easily reached by bus from the central station. Bus route 1 and 6 run regularly (every 10 minutes) and the journey takes only 8 minutes. The closest stop to the Medicon Village is Lund Sparta which is only 200 m away from the entrance. More detailed information on buses and timetables can be found on this website: www.reseplanerare.resrobot.se
Alternatively the Medicon Village can also be reached by a short taxi ride from Lund Central Station (around 4 Km).
Whether you are travelling from the south or the north you’ll probably approach Lund from the E22 motorway. Take exit 22 (Lund Nord) into the E6 motorway and leave at the first exit. Turn left at the first roundabout and follow Scheelevägen for 1 km until you find the Medicon Village (n. 2) on your right hand side.
Please note that the workshop will take place at the Biomedical Centre (BMC) of Lund University. The address is below and you can find more details and a map in the Workshop Tab.
Belfrage Lecture Hall
Biomedical Center (BMC)
entrance at Klinikgatan 32
222 42 Lund
COPENHAGEN AIRPORT is located around 50 Km from Lund. It’s directly connected to many international destinations and offers scheduled flights operated by most airlines including many low cost airlines. Copenhagen Airport is connected to Lund Central Station by regular trains: journey time is around 45 minutes and the price of a second class ticket is 142 SEK. The ticket office is located in Terminal 3 above the railway station. You can visit www.oresundstag.se to plan your journey.
MALMO AIRPORT: Malmö Airport is located 30 km from Malmö, and offers scheduled flights as well as charter flights to a number of destinations including various Eastern European cities. Flygbussarna Airport Coaches operates buses between the airport and Lund Central Station. The buses depart directly outside the airport terminal and travel time is around 40-50 minutes depending on the traffic. A return ticket costs around 200 SEK. More information can be found on the Flygbussarna website: www.flygbussarna.se
Lund has been on the main railway line between Malmö and Stockholm since 1857. Today there are direct connections to Copenhagen and Elsinore via the Oresund Bridge. This connections are mainly served by the Öresundståg. There are regular direct trains from:
Copenhagen Airport – 35 minutes journey
Copenhagen – 50 minutes journey
Malmo – 10 minutes journey
Gothenburg – 3 hours journey
Stockholm – just over 4 hours
Odense – there are no direct trains from Odense to Lund, but you can change in Copenhagen and total journey time will be less than 3 hours
You can visit www.oresundstag.se to plan your journey.
Lund can be easily reached by car and below you can find an indication of some of the distances:
Malmo – 20 Km
Copenhagen – 65 Km (road has toll)
Odense – 215 Km (road has toll)
Gothenburg – 260 Km
Aarhus – 240 Km (via ferry)