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NGS 2016 Glasgow

April 27, 2016 - April 28, 2016

NGS 2016 Glasgow

Conference: 27th & 28th April / Workshop: 26th April


NGS 2016 Glasgow, the 3rd annual Next Generation Sequencing conference took place in Scotland on 27th & 28th April 2016 at the IET Teacher building in the heart of Glasgow city centre. This event was held in partnership with NHS West of Scotland Genetics Service and the University of Glasgow’s Polyomics research facility. In conjunction with the conference there was a one day workshop on 26th April that provided Next Generation Sequencing data analysis training to those working in the wetlab who wanted to be able to analyse the data and understand the data analysis workflows.

Glasgow 2The conference looked at the latest developments in the use of Next Generation Sequencing tools and technologies to understand human disease. The scientific theme aimed to bridge the gap between Clinical Genetics and University Genomic research. Aside from the routine NGS applications such as Exome, Genome and Transcriptome sequencing the audience got to hear about developing applications where sample input is limiting such as in limiting numbers of cells all the way to single cells as well as in liquid biopsies. Whilst many NGS labs are struggling to cope with data needs, we also heard about the latest advances in bioinformatics workflows as well as about ethical and legal issues related to this.

A Panel Debate and a networking discussion allowed our experts and attendees to interact and ponder over topical issues and bottlenecks such as how NGS labs are coping with the data deluge.

Thanks to the kind hospitality of Glasgow City Council we had a complimentary Drinks Reception in the historical settings of Glasgow City Chambers to all attendees.

An evening networking 3-course dinner with wine helped us relax and solidify new collaborations and relationships that we started during the day.


Prof Dame Janet Thornton, EMBL-EBI

Prof Sir John Burn, International Centre for Life

Please click on the Speaker & Agenda tab to view the complete list of speakers who took part.

POSTER SESSION: For young researchers we had a Poster Display during the 2-day conference.

Annalaura Vacca from the IGMM in Edinburgh won the best poster prize with the following poster: “ First responders: Meta-analysis of the induced immediate early response across eight time course datasets”



09.00 – 10.30: Registration, Coffee & Networking
10.30 – 11.00: Network and Collaborations by Dr Ed Quazi
11.00 – 11.30: KEYNOTE – Prof Dame Janet Thornton, EBI-EMBL, Hinxton, Cambridge Exploring Human Variation & it’s impact on proteins & in the clinic
11.30 – 12.00: Prof Philippe Froguel, Faculty of Medicine, Imperial College London NGS in Diabetes From Theranostics to Precision Medicine
12.00 – 12.30: TECHNOLOGY PRESENTATION by Dr Sara Gonzalez-Hilarion, Takara Clontech SMARTer® way for RNA-Seq from single-cells and other challenging samples
12.30 – 13.30: Lunch, Exhibition & Networking
13.30 – 14.00: KEYNOTE – Prof Sir John Burn, Centre for Life, Newcastle The Problem with Prediction
14.00 – 14.30: Dr Rachel Butler, All Wales Genetics Laboratory Circulating tumour DNA (ctDNA) as a biomarker for molecular stratification
14.30 – 15.00: TECHNOLOGY PRESENTATION by Dr Herbert van den Berg & Garry Cusack, Roche Roche Innovates Life Science Sequencing
15.00 – 15.30: Refreshments, Exhibition & Networking
15.30 – 16.00: Prof Malcolm Dunlop, IGMM, University of Edinburgh Using transcriptomic analysis to investigate Colorectal Cancer risk
16.00 – 16.30: Dr Steve Abbs, East Anglia Genetic Service, Addenbrookes Hospital, Cambridge Routine Clinical Exome Sequencing for rare disease
16.30 – 17.30: PANEL DEBATE – Screening of Populations and the Ethics of using Genetic Information
19.30: NETWORKING DINNER (BY REGISTRATION ONLY) at Citation Taverne & Restaurant


09.00 – 09.30: Prof Sarah Ennis, University of Southampton NGS applications to paediatric IBD
09.30 – 10.00: Prof Mark Pallen, Warwick Medical School Metagenomics of archaeological and clinical specimens: window on the past, promise for the future
10.00 – 10.30: TECHNOLOGY PRESENTATION by Dr Guillaume Durin, Covaris DNA and RNA extraction with Covaris AFA technology for NGS analysis: application to FFPE and DBS samples
10.30 – 11.00: Coffee, Exhibition & Networking
11.00 – 11.30: Prof David Hume, Roslin Institute Functional annotation and variation in vertebrate genomes
11.30 – 12.00: Dr Anneke Seller, Oxford Medical Genetic Laboratories, Churchill Hospital The evolving contribution of the NHS Clinical Bioinformatician to the practise of Genomic Medicine
12.00 – 12.30: TECHNOLOGY PRESENTATION by Dr Bernardo Foth, Sophia Genetics NGS-based Diagnostics: How to achieve top analytical performance and guarantee quality
12.30 – 13.30: Lunch, Exhibition & Networking
13.30 – 14.00: Prof Ele Zeggini, Wellcome Trust Sanger Institute Next Generation association studies for complex traits
14.00 – 14.30: Prof Lyn Chitty, Genetics and Fetal Medicine, UCL Institute of Child Health and Great Ormond Street NHS Foundation Trust, London Next generation sequencing as an aid to prenatal diagnosis
14.30 – 15.00: TECHNOLOGY PRESENTATION by Dr Richard Dixon, Omicia Accurate and rapid clinical Whole Genome Sequence interpretation with Omicia for the UK’s 100,000 Genome Project
15.00 – 15.30: Refreshments, Exhibition & Networking
15.30 – 16.00: Prof Win Hide, University of Sheffield Variant prioritisation: moving beyond the paradigm of functional enrichment.
16.00 – 16.30: Prof Geoff Barton, University of Dundee Bringing it all together: From variants to transcripts and protein structure/function


run by our friends at Polyomics, University of Glasgow

Held on 26th April 2016 at:

West Medical Building
Gilmorehill Campus
University of Glasgow
G12 8QQ



Registration 0830-0900 (Seminar Room, Wolfson Link Building)

Location: Computer Cluster 515, West Medical Building
The workshop used Galaxy, an open source web-based platform for informatics data analysis, we briefly introduced Galaxy and familiarise users with its workings. We then used a publically available data set to explore and work with the data from raw reads through to variant annotation, this included: QC, trimming, mapping, variant calling, variant annotation and what this means. The user learnt how to map the raw reads to reference sequences and identify SNPs, and how to manipulate the output files. Finally, an open source software was used to visualise the data.

09.15 – 09.30: Overview
09.30 – 09.45: Introduction to Galaxy
09.45 – 10.15: Galaxy Introductory Workshop
10.15 – 11.20: SNP calling and Variant annotation from Raw reads Part – 1
11.20 – 11.40: Tea/Coffee break
11.40 – 12.40: SNP calling and Variant annotation from Raw reads Part –2
12.40 – 13.40: Lunch
13.40 –14.40: SNP calling and Variant annotation from Raw reads Part – 3
14.40 – 15.40: Visualisation using UCSC web browser
15.40 – 16.00: Tea/Coffee break
16.00 – 17.00: Discussion on findings and Q and A session

Presenters: Julian Augley, Graham Hamilton, David Meltzer and Mani Mudaliar


Takara Logo

Takara Bio Europe and Clontech Laboratories are members of the Takara Bio Group, a leading supplier of tools for life scientists worldwide. Through our brand names TAKARA®, CLONTECH® and CELLARTIS™ we develop innovative technologies in the fields of Cell Biology, Molecular Biology, Proteomics and Stem Cell Research. From next-generation sequencing and PCR, to cloning and genomics, we offer high-performance reagents you can count on for all areas of molecular biology. Key products include SMARTer™ cDNA synthesis kits for Next Generation Sequencing, the innovative In-Fusion® HD Cloning Plus System, high performance PCR/qPCR reagents, Tet-regulated gene expression systems, Living Colors® Fluorescent Proteins, as well as a broad choice of viral vectors/particles and transduction tools. With the recent acquisition of Takara Bio Europe AB (formerly Cellartis), Takara Bio has expanded its portfolio with ready-to-use hiPSC derived hepatocytes and cardiomyocytes, culture media, as well as services such as iPS cell generation, engineering and differentiation. Our best-in-class products are backed by expert technical assistance, because good science needs great support.


As pioneers in sequencing with a rich heritage in diagnostics, Roche Sequencing Solutions is committed to a future that fosters innovation to provide solutions that enable scientific discovery and deliver clinical value. Roche’s portfolio of proven target enrichment solutions is advancing research in human health, agriculture, evolutionary biology, and more. Incorporated in our Sequencing Solutions team is Kapa Biosystems, a provider of genomic tools in the life sciences sector that employs proprietary technologies to optimize enzymes for next-generation sequencing (NGS) sample prep, as well as polymerase chain reaction (PCR) and real-time PCR applications.

Sophia GeneticsSophia 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. www.sophiagenetics.com

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


Omicia is advancing genomics to the clinic. Omicia enables any clinical testing lab to develop a comprehensive genomic testing service and provide high quality clinical interpretation at scale. Unlike systems that were developed for research studies, our Opal Clinical™ informatics, interpretation and reporting platform combines an automated variant annotation and prioritization engine with a rules-based variant classification system to significantly improve the accuracy and turnaround time of clinical reporting.


Eurofins GenomicsEurofins 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 www.eurofinsgenomics.com

IET Building

IET Glasgow:
Teacher Building
14 St Enoch Square
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 just outside the IET, Glasgow Central railway Station is just 5 minutes walk and Queens Street Station 10 minutes walk from the venue.

WORKSHOP VENUE (26th April): Please note that the workshop took 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

NGS 2016 Glasgow

Conference: 27th & 28th April / Workshop: 26th April

IET Teacher Building, Glasgow

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April 27, 2016
April 28, 2016

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