NGS 2015 Glasgow

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NGS 2015 Glasgow

April 22, 2015 @ 8:00 am - April 23, 2015 @ 5:00 pm

APPLICATIONS and DATA analysis: Workshop & Conference

NGS 2015 Glasgow, the fourth biannual UK Next Generation Sequencing Conference from Biotexcel, took place on 22nd & 23rd April and was preceded by a one day NGS Bioinformatics Workshop on 21st April. This event came in partnership with the NHS West of Scotland Genetics Service and the University of Glasgow’s Polyomics research facility and will be held in the heart of Glasgow city centre.


NGS 2015 GlasgowAs with previous events we brought together key opinion leaders from NGS clinical diagnostic labs as well as those from research backgrounds so that our virtual ideas hub continues to flourish and act as a catalyst to help develop collaborations. This event saw a strong focus on Bioinformatics with an entire day dedicated to a workshop at the University of Glasgow covering the steps from raw NGS data all the way to Assembly (eg, raw data, QC, mapping of reads, visualising DNAseq and RNAseq data, understanding the workflows).




In addition to bioinformatics we took a look at wet lab QC issues involving the variable parts of the workflows as well as the newer application areas that are being performed or trickling through to diagnostic labs. Panel debates allowed our experts and attendees to interactively discuss many issues of interest such as the benefits of exome sequencing versus whole genome sequencing and more.


KEYNOTE SPEAKERS:Prof David Porteous, Human Molecular Genetics & Medicine, University of Edinburgh Prof Sean Grimmond, Institute of Cancer Sciences, University of Glasgow Dr Alvis Brazma, Functional Genomics EMBL-EBI, Cambridge

A G E N D A*

Day 1 – 22nd April

09.00 – 10.30 Registration, Coffee & Networking
10.30 – 11.00: Opening by Nicola Williams, Head of Lab, West of Scotland Genetic Services, NHS Greater Glasgow and Clyde Challenges and opportunities of implementing genomic sequencing technology into the NHS
11.00 – 11.30: Networking and Collaborations by Dr Ed Quazi
11.30 – 12.00: KEYNOTE – Prof David Porteous, Chair of Human Molecular Genetics & Medicine, University of Edinburgh Mental Health Genetics and Genomics
12.00 – 12.30: TECHNOLOGY PRESENTATION by Dr Rodrigo Barnes, Aridhia Industrialising genomic annotation for clinical service delivery
12.30 – 13.30: Lunch, Exhibition & Networking
13.30 – 14.00: Dr Eran Elhaik, Bioinformatics Hub, University of Sheffield In search of the Holy Grail of Population Genetics From DNA to Home Village in 30 seconds
14.00 – 14.30: KEYNOTE – Prof Sean Grimmond, Institute of Cancer Sciences, Glasgow Deciphering the root causes, driver mutations and therapeutic opportunities in recalcitrant cancers
14.30 – 15.00: TECHNOLOGY PRESENTATION by Dr Louisa Ludbrook, Horizon Diagnostics Dr Matthew Smith, University Hospitals Birmingham NHS Foundation Trust Validating a commercial NGS targeted panel workflow for somatic variant detection
15.00 – 15.30: Refreshments, Exhibition & Networking
15.30 – 16.00: Dr Steve Abbs, Director, East Anglia Genetic Service, Addenbrookes Hospital, Cambridge Clinical exome sequencing to diagnose genetic disease
16.00 – 17.00: PANEL DEBATE – Clinical Exome vs. Genome Sequencing – Sean Grimmond, Steve Abbs, Paul Westwood hosted by Darren Grafham.
18.15: Drinks Reception at City Chambers hosted by the Lord Provost of Glasgow
19.30: Networking Dinner (by registration only) at Gandolfi Fish

Day 2 – 23rd April

09.00 – 09.30: Rachel Butler, All Wales Genetic Laboratory, Cardiff Tackling those tricky tumour samples
09.30 – 10.00: Dr Chris Ponting, MRC Functional Genomic Unit, University of Oxford High resolution ChIP-Exo data reveal allele-specific binding differences at genome wide and disease associated loci
10.00 – 10.30: TECHNOLOGY PRESENTATION – QIAGEN Sample to Insight: Analysing and interpreting the biological meaning in NGS data by Dr Tim Bonnert, Qiagen
10.30 – 11.00: Coffee, Exhibition & Networking
11.00 – 11.30: Dr Bhupinder Bhullar, Head of Lab, Novartis, Basel Clinical genomics for next generation drug discovery
11.30 – 12.00: KEYNOTE – Dr Alvis Brazma, Functional Genomics EMBL-EBI, Hinxton, Cambridge Transcriptome structure in normal and cancer gene expression
12.00 – 12.30: TECHNOLOGY PRESENTATION – Sophia Genetics: Towards Data Driven Medicine by Dr Audrey Coiffic, Sophia Genetics
12.30 – 13.30 Lunch, Exhibition & Networking
13.30 – 14.00: Dr Augusto Rendon, Director of Bioinformatics and Genome Analysis, Genomics England The 100,000 genomes project
14.00 – 14.30: Dr Hywel Williams, Centre for Translational Omics – GOSgene, UCL Institute of Child Health, London Gene identification in children with rare uncharacterised diseases
14.30 – 15.00: Dr Xu Huang, Institute of Cancer Sciences, University of Glasgow. Sponsored by Diagenode Epigenetic aspects of acute myeloid leukaemia stem cells
15.00 – 15.30: Refreshments, Exhibition & Networking
15.30 – 16.00: Dr Mick Watson, Director of ARK-Genomics, The Roslin Institute, University of Edinburgh Genomics and metagenomics applied to animal health and food security
16.00 – 16.30: Dr Oliver Hofmann, Institute of Cancer Sciences, University of Glasgow Community developed frameworks for large scale genome analysis


University of Glasgow, 21st April 2015 This event took place on 21st April (the day prior the main conference) at the Computer Cluster, West Medical Building, University of Glasgow. The programme was divided in 3 parts covering the following:



  • From raw data to the assembly (raw data, QC, mapping of reads, visualising DNAseq and RNAseq data, understanding the workflow)
  • Interpreting RNAseq results (inspecting data from different conditions, visualising count-based data, differences between polyA selected and ribosomal depleted samples, functional analysis of differential expression data, network analysis of differential expression data)
  • Interpreting DNAseq data (variant calling, variant filtering and interpreting, variant based diagnosis)



Sophia_Logo_1024Sophia 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.


Aridhia LogoAridhia is a world-leading health informatics company developing technology and capability that supports the management of chronic diseases, precision medicine and biomedical research through the use of biomedical informatics and analytics. Aridhia was co-founded in 2007 by David Sibbald a software entrepreneur and philanthropist; and Professor Andrew Morris who is Chief Scientist for Health in Scotland, Professor of Medicine, Director of the Institute of Population Heath Sciences and Informatics, and Vice-Principal of the University for Data Science at the University of Edinburgh. Based in Edinburgh and Glasgow, Aridhia is made up of a multi-disciplinary team of 50, data scientists, clinicians, computer scientists, software developers and healthcare experts. MARKET FOCUS: Aridhia was founded on the principle that in order to bring about real change within healthcare, a multidisciplinary, collaborative approach is vital. No matter where you look in healthcare or research three common themes emerge. – Collaboration is the solution to solving difficult challenges and translating research into clinical practice. – Information Governance is central to all uses of data. – Building commercial solutions to population scale while offering personalised choice. We came together because we believe that the prevalence of chronic diseases threaten to strain healthcare systems everywhere unless academia, governments, healthcare organisations, pharmaceutical and biotechnology companies collaborate and use their collective power to invest strategically in global solutions for the delivery of clinical care for chronic disease within the next 10-15 years. To meet this need we have created AnalytiXagility, a collaborative data science platform for healthcare and research, allowing users to build informatics solutions utilising Aridhia’s analytics platform, data science services, API services and app development capability. AnalytiXagility is the platform that underpins the world-leading Stratified Medicine Scotland – Innovation Centre. For further information, please visit


QiagenQIAGEN Bioinformatics is powered by CLC bio, Ingenuity, and BIOBASE. We offer bioinformatics software tools for next generation sequencing (NGS) data analysis and interpretation. Our solutions are designed to be universal, so you can mix and match the technologies best suited to your needs.




HorizonHorizon 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%.


Diagenode SMALLDiagenode 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.


Cambridge Bioscience LogoCambridge Bioscience is a leading distributor of life science products with a passion for bringing new and exciting technologies to researchers. Working with over 50 specialist suppliers around the world, we offer an innovative, extensive and diverse range of high quality products, services and instruments supporting research in the areas of next-generation sequencing, exosomes, molecular biology, epigenetics, cell culture, cell analysis and much more. Cambridge Bioscience – A Great Choice For Life Science Research.


KapaKapa Biosystems is a life science reagents company that utilizes a proprietary directed evolution technology to optimize enzymes for PCR, real-time PCR and next-generation sequencing applications. Visit our booth to learn how our latest DNA and RNA library preparation products simplify workflows and improve next generation sequencing results. KAPA Hyper Plus (is) a single tube DNA fragmentation and library preparation workflow in 2.5 hours. KAPA Stranded RNA-Seq Kits with RiboErase (is) an effective enzymatic method for depletion of up to 99.9% Ribosomal RNA for preparation of high-quality libraries for transcriptome sequencing.


Eurofins Genomics

Eurofins Genomics, with major offices and production sites in Europe, Japan and the USA, is an international provider of genomic services established around the core business lines DNA sequencing, oligonucleotides, siRNA and gene synthesis. The company’s main mission is focussed on providing customer convenience and high quality services in industrial scale for the life science industries and academic research institutions around the world. Eurofins Genomics competence in the synthesis of Oligo’s has made the company a European market leader and a strong global player. For further information about Eurofins Genomics, please visit


EUFORMATICSEuformatics provides state-of-the-art solutions that remove high-throughput NGS data handling bottlenecks in translational and clinical genomics. Euformatics has an exceptionally strong R&D activity and connections to the academic research world. Tight collaborations with medical geneticists, pathologists and oncologists are reflected in Euformatics’ portfolio of software solutions for NGS quality management and for genome variant interpretation. All solutions automatises to a maximum the knowledge gathering processes to the benefit of speed, quality and consistency. The omnomicsNGS product line focuses on patient-specific genome data analysis, data gathering, aggregation, and sharing. The users are medical geneticists that have to recognise pathology-related genes or find the reasons behind rare diseases, based on the analysis of gene panel, whole exome, or whole genome NGS data. The user can tailor biomarker tests, create own annotations, group patients for cohort analysis, and filter genetic changes. Results are visualised in the light of known variations, diseases, protein domains, drug responses and several other associations. The omnomicsQ product addresses the need for clinical NGS testing to set standards for bioinformatics analyses through the use of quality policies. OmnomicsQ implements quality control best practices. Regular use provides the first line of defence against quality issues. Improved quality reflects positively on costs and time, adherence to industry best practices leads to a reduction in high-risk events. Greater visibility and traceability provides the ability to follow, report and alert, and hence make better and earlier decisions.


Rubicon Genomics-hztl-color Rubicon Genomics is a provider of ThruPLEX® and PicoPLEX™ kits for pre-analytical amplification of nucleic acids for research and clinical applications. Our technologies’ simple protocols, fast time to results and unique ability to amplify nucleic acid from “difficult” samples such as single cells or cell free DNA differentiate our products and enable researchers and healthcare providers to more easily and cost-effectively realize the benefits of the genomic revolution. For more information, visit



polyomics logo 2014UoG_colour logo_NHSGGC_ 2_colour

IET Glasgow: Teacher Building

14 St Enoch Square Glasgow G1 4DB Tel: +44 (0)141 530 9931




CONFERENCE VENUE:The IET Teachers Building is located in the heart of Glasgow city Centre so is fully accessible by all major transport links. St Enoch Underground station is only 2-3 minutes walk away Glasgow Central railway Station is just 5 minutes walk and Queens Street Station 10 minutes walk from the venue. WORKSHOP VENUE (21st April): Please note that the workshop is taking place at the University of Glasgow. The University is located just outside the city centre and it can be easily reached by metro. The closest metro station to the University campus is Hillhead and it’s located 4 metro stops from St Enoch metro station in the city centre (around 2.5 miles from the centre). The address for the workshop venue is below and you can find detailed directions HERE Computer Cluster 515 West Medical Building Gilmorehill Campus University of Glasgow G12 8QQ






Glasgow is served by two main airports close to the city which are Glasgow International Airport and Glasgow Prestwick International Airport. Edinburgh Airport is approximately 40 miles away.


Glasgow International Airport: Located 8 miles west of the centre of Glasgow near the towns of Paisley and Renfrew, this is the city’s principal airport, and the main direct long haul and transatlantic entry airport into Scotland. There are regular scheduled UK and European destinations, holiday charters, and the airport is the hub for the Scottish island network operated by Loganair. KLM flies regularly to Glasgow from Amsterdam-Schiphol which connects with a wide range of international destinations. EasyJet flies from Luton, Stansted and Gatwick. The frequent Glasgow Shuttle bus departs from outside the terminal building to the city centre, dropping off near both main railway stations (£5.00 single, £7.00 day return, £8 open return). Slower, less frequent, but cheaper is First’s route 747 (£4 single, £5 return).


Glasgow Prestwick International Airport: This is about 50 km south west of Glasgow on the Ayrshire coast, is the city’s secondary airport and a major hub for Ryanair. Ryanair flies into Prestwick predominantly from Dublin, a variety of Mediterranean resorts (mostly seasonal), Derry and Paris (Beauvais), in addition to some useful routes from various destinations in Eastern Europe. Some holiday charter flights fly into Prestwick rather than Glasgow’s main airport. The airport has its own railway station, with two trains per hour to Glasgow Central (show your flight paperwork to get a £3.55 half price ticket; the journey takes around 45min). All trains from Ayr call at the airport. The A77/M77 roads run directly from Prestwick into the centre of Glasgow if you intend to drive. The X77 bus also runs from the airport to Buchanan Bus Station throughout the day, and crucially covers the times (early morning and late evening) when the trains are not running.


Edinburgh International Airport: Edinburgh airport is easily accessible from Glasgow since it is on the western edge of Edinburgh, approximately 60km away and about an hours drive via the M8 motorway. Useful as both Ryanair and Easyjet have a number of European routes that are not available from either Glasgow International or Prestwick. Citylink operate a direct bus service from the airport to Buchanan Bus Station approximately every 30 minutes during the day. The airport can also easily be reached via a connecting bus or tram from Haymarket railway station – all trains from Glasgow call here.



Glasgow has two main line railway stations. Trains from the south of Scotland, the city’s southern suburbs and all long distance trains from England arrive at Central Station (officially known as Glasgow Central), while shuttle trains from Edinburgh and anywhere north of Glasgow arrive at Queen Street Station. Glasgow can be reached from London by either the West Coast or East Coast main lines.



Virtually all long-distance, and some short-distance, buses serving Glasgow arrive at the Buchanan Bus Station (in the city centre, close to Buchanan Street and Queen Street train station). Buchanan Bus Station is located 15 minutes away from the venue. National Express, Scottish Citylink and Megabus are the main long-haul coach operators serving Glasgow.



If you are attending the workshop on 21st April, please note that this will take place at the University of Glasgow. The University is located just outside the centre and it can be easily reached by metro (around 2.5 miles from the centre). Glasgow city centre offers a wide range of accommodation to suit all tastes and budgets. Below you can find some suggestions which are located very close to the conference venue (IET Teacher Building). Jurys Inn ( Arrto Hotel ( Holiday Inn Express ( The Merchant City Inn ( You might also find these websites useful: PLEASE NOTE: Accommodation is not provided and should be arranged directly by the registrants. All the above is for information only and we do not have any connection with the hotels and websites listed.


April 22, 2015 @ 8:00 am
April 23, 2015 @ 5:00 pm