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12th International Symposium on Mutation in the Genome: mutation detection & genome sequencing- detecting variants one-by-one or genome wide

  May 18, 2012  

Mutation Detection 2013, Lake Louise, Alberta, Canada
22nd - 26th April, 2012

We invite you to attend the 12th biennial meeting of this series that will be held at The Fairmont Chateau Lake Louise, in the UNESCO World-heritage Banff National Park.   Lake Louise has become symbolic of the quintessentially Canadian mountain scene. This alpine lake, known for its sparkling blue waters, is situated at the base of impressive glacier-clad peaks that have long been at the heart of Canadian mountaineering. At about 2.5 kilometres long and 90 metres deep, the lake offers a surreal paddling experience in the warm summer months and one of the most scenic skating rinks in the world in winter.

Scientific Programme Committee

  • Richard Cotton (Chair), Melbourne
  • Johan T. den Dunnen, Leiden
  • Stephen F. Kingsmore, Santa Fe
  • Mats Nilsson, Uppsala
  • Others TBA

About the Meeting

The first meetings in this series concerned methodology which was developed to find mutations/variations in DNA. When we fast forward on 20 years we find cheaper and cheaper methods being used to do the same faster and faster. This has required different and new technologies to (a) analyze the output from the sequences (b) methods to assign pathogenicity to variants (c) databasing, (d) pre-conception testing and (e) personal genomes. The content of this meeting has moved in this direction.


We are all conscious of the disadvantages developing countries face in healthcare. In the area of genetic healthcare, sophisticated machines are beyond the reach of many, thus we are always wishing to showcase methodology that is affordable for all whether it be a new method or an old favourite with a new application.  We are also always wishing to present the latest and best methodlogy for scanning and sequencing and new technologies will be presented as always. 

We therefore encourage you to come and learn something new and or present your findings at our meeting in Lake Louise,  a wonder of nature. We hope you take full advantage of the experts and companies we shall assemble. This wonderful environment coupled with good food and excellent science should provide an atmosphere of many new ideas and collaborations.

As always, this meeting limits the number of attendees to allow maximum interaction between delegates and we have prepared a wonderful social programme to complement the scientific programme that will ensure the best networking possible.




Organized by: GDRC
Invited Speakers:

 * to be confirmed

  • *Matthew Cooper, Brisbane, Australia - Fluorogenic pyrosequencing in microreactors
  • Richard G.H. Cotton, Melbourne, Australia -The Human Variome Project
  • Johan T. den Dunnen, Leiden, The Netherlands - TBA
  • *Richard Durbin, UK - UK 10,000 Genomes Project 
  • *Richard Gibbs, USA - Clinical DNA sequencing
  • Stefan Harrer, Melbourne, Australia - DNA Nanopore Sequencing 
  • Stephen Kingsmore, Santa Fe, USA - Sequencing strategies to detect variants
  • Yves Moreau, Leuven, Belgium - Microarray analysis of CNV in single cells; exome CNV 
  • Mats Nilsson, Uppsala, Sweden - Sequencing RNA in fixed cells and tissue
  • *Svante Paabo, Leipzing, Germany - Neanderthal DNA Project
  • *Pattabhiraman Shankaranarayanan, Strasbourg, France - Single tube linear DNA amplification for genome-wide studies using a few thousand cells
  • *Michael Snyder, Stanford, CA, USA - Variation in regulatory information and annotation of personal genomes for disease risk prediction
  • Graham Taylor, Leeds, UK - Quality control of mutation detection by next generation sequencing
  • *Chris Toumazou, London, UK - Hand held - SNP-DR
  • *Ciska Wijmenga, The Netherlands - Genome of the Netherlands
  • *Liz Worthey, Wisconsin, USA - Genome interpretation software- "carpe novo" 
  • *Sunney Xie, Cambridge, MA, USA - Flurogenic DNA sequencing in PDMS microreactors



Deadline for Abstracts: 19th January 2013


You are welcome to attend the meeting without submitting an abstract. Only those registering are able to submit abstracts.  Opportunites for both oral and poster presentations are available. If you are not assigned an oral presentation, you will most likely be assigned a poster presentation if your abstract is within the scope of the meeting. Please visit the website for more information on preffered topics and themes.


Everything you need to know about registration, transport, schedule etc. etc. is on the meeting website!




E-mail: rania@variome.org
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