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13th International Symposium on Mutation in the Genome: detection, genome sequencing & interpretation

Monday, 27 April 2015 to Thursday, 30 April 2015 from 10:30 AM - 1:00 PM

Holiday Inn Leiden, Netherlands


It is my pleasure to invite you to attend the 13th International Symposium on Mutation in the Genome: detection, sequencing & interpretation (“Mutation Detection 2015”), a biennial meeting of a series that this time will be held in Leiden, the Netherlands, a historical city with a strong human genetics history.

By attending this important event you will:

  • Hear presentations by renowned speakers

  • Share your knowledge and ideas

  • Engage and learn in a relaxed environment

  • Access networking functions

  • Meet with key technology providers

The first meetings in this series starting in 1991 in Oxford focussed on methodology developed to find mutations/variants in DNA. When we fast-forward on 25 years we find cheaper and cheaper methods being used to do the same more sensitive, more effective and ever faster. Over the years we have seen new technologies emerging to (a) analyze the output from the sequences, (b) assign pathogenicity to variants, (c) databasing, (d) pre-conception testing and (e) personal genomes. As a consequence the content of the meeting series and the interest of the participants has moved in the same direction.

The meeting aims to present the latest developments in the field, the best methodologies for scanning, sequencing, bio-informatic analysis and functional testing. The meeting will be presented in plenary format with notable invited speakers and invited abstracts after peer review. The meeting will include Workshops on themes related to NGS pipelines and analysis, data collection and variation nomenclature. 

I therefore invite you to submit your abstracts as soon as possible, and encourage your hard working staff to travel to Leiden  for this special meeting.  As we wish to release the programme as far ahead as possible in advance of the meeting, we will be very strict on abstract deadlines.  

Prof. Johan T. den Dunnen



See more about Leiden by watching this video here.

Print a flyer to put up in your institute here.

Scientific Programme Committee

  • Johan T. den Dunnen (Leiden) Chair
  • Richard G.H. Cotton (Melbourne)
  • Ivo Gut (Barcelona)
  • Mats Nilsson (Stockholm)
  • Stefan White (Melbourne)


This meeting is intended to provide all participants with an opportunity to contribute and learn.


Whats new for 2015

  • Rapid Fire Poster Presentations: Selected high quality posters will present 3 slides and 3 minutes of oral presentations.
  • RD - Connect Session: RD-Connect/Global Alliance for Genomics and Health: data sharing and integration for rare diseases: “Knowledge from sharing” Session to be held.


Invited Speakers

Thierry Voet

Department of Human Genetics, KU Leuven, Leuven, Belgium

Developments in single cell sequencing

Joris Vermeesch

Lab. for Cytogenetics & Genome Research, KU Leuven, Leuven, Belgium

New technologies applied in the diagnostic laboratory


Siddharth Subhas Dey

Hubrecht Institute, Utrecht, The Netherlands

Integrated genome and transcriptome sequencing of the same cell (Nat Biotechnol. 2015 Jan 19. doi: 10.1038/nbt.3129)


Prof. Sir John Burn 

University of Newcastle Upon Tyne, United Kingdom

The Global Variome


Johan T. den Dunnen

Leiden University Medical Centre, Leiden, Nederland

RNA, The Neglected Molecule


Mats Nilsson

Stockholm University, Sweden

Spatially resolved mutation detection and sequencing in situ


Ivo Gut

Fundacio Privada Parc Cientific de Barcelona, Barcelona, Spain

de novo Assemblies


Stefan White

Monash University, Melbourne, Australia

Rare, non-coding DNA variation and disease


Distinguished Speakers

Wayne Grody

UCLA School of Medicine, CA, USA

Clinical Exome Sequencing at a Large Academic Medical Center: Diagnostic Yield, Variant Spectrum, and Lessons Learned




Previous Meetings

Never been before? Get an idea of what its like by looking at the previous meeting:

Previous meeting 2013 Website

Published Meeting Report 2013 Meeting

Published Meeting Report 2011 Meeting



  • Technology - sequencing
  • Technology - variant detection
  • Technology - smaller, faster, cheaper
  • From variant to function (or Functional analysis)
  • Genome projects
  • Diagnostics
  • Knowledge from sharing
  • Applications 
  • Bioinformatics - Variant Effect Prediction
  • Databases and knowledge resources
  • & more...




Holiday Inn Leiden

Haagse Schouwweg 10
2332 KG, Leiden



Satellite Workshop

A Satellite Workshop will be held on Sunday 26th April at the conference hotel.   Click the linkabove right to find out more.



As usual, we have a wonderful programme arranged.  Lunches, the Welcome Reception and Gala dinner are included in your registration fee. 

Sunday 26th April

  • Satellite meeting - Registration 9.00

Monday 27th April

  • Registration 9.30 am - 10.30 am
  • Symposium begins 10.45 am sharp
  • Evening at leisure

Tuesday 28th April

  • Meeting Continues
  • Welcome by Mayor of Leiden 5.30 - 7.00 pm
  • Evening at leisure

Wednesday 29th April

  • Meeting Continues
  • Conference Dinner - surprise exciting venue - 5.15 pm departure sharp

Thursday 30th April

  • Half day meeting
  • Meeting ends 1.00 pm - in time for most flights out of Amsterdam Schipol airport.



We have secured accommodation at excellent rates.  You may book this during the registration process.  Registration & Accomodation booking opens 15th November 2014.

From 25th January 2015 rooms at the conference hotel will be based on availability.  We must give rooms back to the hotel so we cannot guarantee a room after this date! 26th Feb. 2015 - VERY limited rooms available until they sell out.  NOTE ROOMS SOLD OUT!  TRY AND BOOK THE HOTEL YOURSELF, THEY MAY HAVE ROOMS.


Invitation Letters for VISA etc.

We are UNABLE to send invitation letters for VISA applications unless a fully paid registration is received from a delegate from a legitimate scientific institution. We will be checking all invitation letter applications.  PLEASE do not waste your time or our time if you are not a legitimate delegate!






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