The fourth annual NGS 2017 Glasgow Conference took place at the IET Teacher Building on 16th & 17th May and covered the following areas: Next Generation Sequencing applications and workflows, personalized genomics including the 100,000 Genomes project updates, long read sequencing potential in the clinic, single cell genomics, legal/ethical perspectives in whole genome analysis, clinical whole exome sequencing, cancer and rare disease genomics as well as bioinformatics, data analysis and storage.
This year event was organized in partnership with:
This regional Genomics & Next Generation Sequencing based event featured speakers including Prof Ruth Jarret (Glasgow), Prof Eamonn Maher (Cambridge), Prof Graham Taylor (London), Prof Anneke Lucassen (Southampton), Dr Michael Yau (London) and many other opinion leaders. Please click on the AGENDA tab to take a look at the full list of speakers and titles of their presentations.
NETWORKING: in addition to the excellent science, NGS 2017 Glasgow allowed delegates to interact with each other during networking events. These networking opportunities included:
– Introductory networking session on Day 1
– Panel debate
– Complimentary Drinks Reception at City Chambers hosted by the Lord Provost of Glasgow
– Networking dinner on the evening of 16th May at the Western Club Restaurant
Who attended the 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|
|11.00 – 11.30:||Prof Eamonn Maher, Medical Genetics, University of Cambridge
Adrenaline, Breaking Ten and Omics
|11.30 – 12.00:||Dr Angela Douglas MBE, Cheshire and Merseyside Genetics Service
Delivering the 100,000 Genome Project
|12.00 – 12.30:||TECHNOLOGY PRESENTATION by Rowan Gibson, Covaris
Covaris product update: Active blood extraction using Covaris AFA
|12.30 – 13.30:||Lunch, Exhibition, Networking|
|13.30 – 14.00:||Prof Graham Taylor, ViaPath at Guy’s, St Thomas’s & King’s College hospitals
What can long reads and linked reads bring to the diagnostic genomics party?
|14.00 – 14.30:||Dr Mike Stubbington, Sanger Institute
Exploring T-Cell biology with single cell genomics
|14.30 – 15.00:||TECHNOLOGY PRESENTATION by Roche: Dr Ana Da Silva Filipe, University of Glasgow
Rare hepatitis C virus subtypes in the UK: the role of next generation sequencing in the era of new interferon free treatments
|15.00 – 15.30:||Coffee, Exhibition & Networking|
|15.30 – 16.00:||Prof Anneke Lucassen, Wessex Clinical Genetics Service & University of Southampton
Ethical and legal perspectives of the use of cheap and fast whole genome analyses in healthcare
|16.00 – 16.30:||Dr Dominik Seelow, Charité, Berlin
Identification of disease mutations with MutationTaster and MutationDistiller
|16.30 – 17.00:||Dr Veronique Vitart, MRC Human Genetics Unit, University of Edinburgh
Application of NGS to the study of severe myopia and hyperopia in a Scottish isolated community
|17.00 – 17.45:||PANEL DEBATE: Topical issues and Bottlenecks|
|18.30:||COMPLIMENTARY DRINKS RECEPTION at CITY CHAMBERS|
|19.30:||NETWORKING DINNER (booking required)|
|09.00 – 09.30:||Prof Colin Semple, MRC Human Genetics, University of Edinburgh
The blind watch breaker: evolution at regulatory sites in cancer
|09.30 – 10.00:||Dr Michael Yau, Molecular Genetics, Viapath at Guys Hospital
Molecular Diagnostic Analysis from Custom Panels to WES and WGS
|10.00 – 10.30:||TECHNOLOGY PRESENTATION by Dr Houda Hallay, Advanced Analytical Technologies (AATI)
Accurate Analysis Of Large Fragment Smears And Small Nucleic Acid Quantities Using The FEMTO Pulse Automated Pulsed-Field CE Instrument
|10.30 – 11.00:||Coffee, Exhibition & Networking|
|11.00 – 11.30:||Dr Kim Brugger, East Anglian Medical Genetics Service, Addenbrookes Hosptial, Cambridge
Rapid clinical NGS response to containing infectious disease outbreaks
|11.30 – 12.00:||Prof Ruth Jarrett, MRC-University of Glasgow Centre for Virus Research
Inherited chromosomally integrated HHV-6: an endogenous viral element with potential to cause disease
|12.00 – 12.30:||TECHNOLOGY PRESENTATION by Hasi Patel, Bluebee
Bringing NGS Analytics from the Research Lab to the Clinic
|12.30 – 13.30:||Lunch, Exhibition & Networking|
|13.30 – 14.00:||Dr Susan Farrington, CR UK, Edinburgh
Utilising the many different facets of Next-Generation Sequencing Technologies to understand Colorectal Cancer risk
|14.00 – 14.30:||Prof Rita Horvath, Institute of Human Genetics, Centre for Life, Newcastle
Genes and disease mechanisms in hereditary motor neuropathies
|14.30 – 15.00:||Dr Kenneth Baillie, Roslin Institute, University of Edinburgh
From Next Generation Sequencing to the underlying biology of disease
|15.00 – 15.30:||Coffee, Exhibition & Networking|
|15.30 – 16.00:||Dr Pippa Thomson, Centre for Genomics & Experimental Medicine, Western General Hospital
Using whole genome sequencing to understand the genetic complexity of psychiatric illness: the role of families
|16.00 – 16.15:||SHORT POSTER PRESENTATION
Toby Gurran, Institute of Genetics and Molecular Medicine, University of Edinburgh
Splice QTLs in the context of predisposition to colorectal cancer
|16.15 – 16.30:||SHORT POSTER PRESENTATION
Dr Gabriella Gazdagh, West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow
Exome sequencing uncovers new genetic associations in Deciphering Development Disorders (DDD) Study participants with Disorders of Sex Development (DSD). (…)
DATA ANALYSIS WORKSHOP – 15th May 2017 – See Draft Agenda Below
run by our colleagues at Polyomics, University of Glasgow
Computer Cluster 515
West Medical Building
University of Glasgow
The workshop used Galaxy (usegalaxy.org), an open source web-based platform for informatics data analysis; Galaxy was briefly introduced and users familiarise themselves with its workings. Galaxy was then used to create an analysis pipeline for variant calling in a human disorder. A publicly available data set was then used 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 users 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.
Presenters – Graham Hamilton, David McGuinness, David Meltzer
|09.00 – 09.30:||Registration (Seminar Room, Wolfson Link Building)|
|09.30 – 09.45:||Overview|
|09.45 – 10.15:||Introduction to Galaxy|
|10.15 – 10.30:||Galaxy hands on|
|10.30 – 11.30:||SNP calling and Variant annotation from Raw reads Part – 1|
|11.30 – 11.45:||Tea/Coffee break|
|11.45 – 12.45:||SNP calling and Variant annotation from Raw reads Part –2|
|12.45 – 13.05:||TECHNOLOGY PRESENTATION by Dr Manuel Corpas, Repositive
Finding and accessing human genomic data workshop
|13.05 – 14.00:||Lunch|
|14.00 –15.00:||SNP calling and Variant annotation from Raw reads Part – 3|
|15.00 – 15.15:||Tea/Coffee break|
|15.15 – 16.15:||Visualisation using UCSC web browser|
|16.15 – 17.00:||Discussion on findings and Q and A session|
Covaris 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
Headquartered in Pleasanton, California, the Roche Sequencing Unit is focused on developing novel sequencing technologies and products to support innovation in clinical research applications. Our goal is to develop assays for sequencing, and refine sequencing techniques to advance sequencing technologies that will deliver truly differentiated clinical value.
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.
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.
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.
Advanced Analytical Technologies Inc. (AATI) develops, manufactures and markets high-throughput, fully-automated nucleic acid and genetic analysis systems. The company’s products have both commercial and research applications and are designed to improve processes within the molecular diagnostics, pharmaceutical, life science, agricultural and biofuels industries. The company’s product portfolio includes instruments for the parallel analysis of biomolecules, DNA, RNA, genomic DNA, double-stranded DNA, gene editing (CRISPR/Cas9), pharmaceutical compounds and proteins using capillary electrophoresis (CE) with fluorescence detection or UV absorbance. The company’s flagship product, the Fragment Analyzer, is recognized as the best-in-class, multi-channel, automated fluorescence-based CE detection system for the simultaneous analysis of the quantity and quality of nucleic acids, including: dsDNA fragments, gDNA, NGS fragments and RNA (total and messenger) and microsatellites (SSR). Advanced Analytical Technologies, Inc. (AATI) simplifies complex genomics workflows to accelerate research and discovery in pharmaceuticals, life science, biofuels, biotechnology and healthcare. The company has facilities in Ames, Iowa, USA and Heidelberg, Germany. We support customers through a global network of distributors and support centers.
Bluebee (www.bluebee.com) provides high performance genomics solutions, enabling genomic labs to substantially reduce cost and time-to-actionable results. Bluebee’s unique cloud-based accelerated genomics platform enables fast, efficient and affordable processing of large volumes of genomics data. With Bluebee’s private-cloud based solutions, labs can run their pipelines orders of magnitude faster without compromising the algorithms and methods used, nor the flexibility required to provide quality, sensitivity and reliability.
The combination of domain experts in the development and deployment of large scale, mission-critical infrastructure, seasoned bioinformaticians and renowned academic researchers in high-performance computing, led to the use of three disruptive technologies – high performance computing, cloud computing and genomics – which together deliver a unique genome analytics service for research and clinical labs.
Genome 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. A full diagnostic interpretation of clinically relevant variants is offered. The laboratory has over 130 coworkers and performs >29.000 tests and >6000 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.
Genetic research is often delayed due to difficulties finding relevant DNA data. Finding the right data source is difficult and time-consuming. At present researchers might commonly spend 6 months locating and gaining access to data.
Repositive is a community-driven genomic data discovery portal which provides a secure and easy-to-use platform for users to find, access, share and request data from our worldwide community. Quicker access to DNA data and data sharing collaboration can generate better research, faster research discoveries and help save lives.
PolyPico Technologies is an Irish based company that has developed a technology used in laboratories for dispensing precious biomaterials and fluids with extreme precision in ultra-low volumes. Our affordable system is made highly accurate by a precision calibration system and is very suited to the deposition of a wide range of biomaterials such as living cells, DNA, proteins, antibodies etc. Through the novel use of our disposable dispensing cartridges, this patent pending technology enables for the first time the removal of cross contamination risk, cleaning equipment and process costs. PolyPico Technologies have been in business since 2013 and have sold their technology to international pharma companies, commercial research centres and academic institutes worldwide.
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. The full address is below:
IET Teacher Building
14 St Enoch Square
TEL: +44 (0)141 530 7838
WORKSHOP VENUE (15th May only): Please note that the workshop will take 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
University of Glasgow
HOW TO GET TO GLASGOW
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 15th May, 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 (www.jurysinns.com/hotels/glasgow)
Arrto Hotel (www.arttohotel.com)
Holiday Inn Express (www.expressglasgow.co.uk)
The Merchant City Inn (www.merchantcityinn.com)
You can find more information about accommodation on the Glasgow City Marketing Bureau website. Please click the pink ‘People Make Glasgow’ button to view hotels and other useful information about the city of Glasgow.
PLEASE NOTE: Accommodation is not included in the registration fees 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.