10th Australasian Mutation Detection Meeting

Monday, 1 September 2014 to Thursday, 4 September 2014 from 4:00 PM - 1:00 PM

Daydream Island Resort and Spa, Daydream Island, Australia


It is my pleasure to invite you to the 10th Australasian Mutation Detection Meeting to be held at the Whitsundays resort of Daydream Island, Queensland.  This marks the 20th year this biennial series has been running.   This meeting has been regarded as "the meeting" for the community of Australasian molecular diagnostic laboratories and has forecast several waves of technology change... DHPLC, HRM, MLPA etc. in Australia. These applications were presented at Australasian Mutation Detection meetings.  Now we find ourselves at a time where next generation sequencing and its clinical applications and the bioinformatic transformation that it heralds will be the major themes for 2014.

I therefore invite you to submit your abstracts as soon as possible, and encourage your hard working staff to travel to the Whitsundays  for this special local 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. Richard Cotton, Mutation Detection Chair


Print a Flyer and put up in your institute's hallway here.


Scientific Programme Committee

  • Richard Cotton (VIC) Chair
  • John Mac Millan (QLD)
  • Finlay Macrae (VIC)
  • Graham Taylor (VIC)
  • Peter Taylor (NSW)
  • Vanessa Tyrrell (NSW)



Take a look at the programme here  - last update 14 August.


Keynote Speakers

Johan T. den Dunnen

Leiden University Medical Centre, Leiden, Nederland

A focus on RNA: diagnostics, single molecule sequencing, ribosome profiling and gene therapy  &

Variation Nomenclature Workshop


Mireille Claustres

Laboratoire de Génétique Moléculaire, Université MONTPELLIER, France

"Over a decade of experience with PGD for single gene disorders at Montpellier, Southern France" &

"CFTR-France, a national patient-related database dedicated to CF and CFTR-related disorders to support the interpretation of unclassified variants"


Mark Davis

Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, Nedlands WA

"Two years experience of next generation sequencing in a clinical neurogenetics setting"


Graham Taylor

The University of Melbourne, VIC

"The Human Variome Database in Australia in 2014"


Previous Meeting

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

Previous meeting program

Previous meeting website



  • next generation sequencing
  • whole genome sequencing
  • mutation detection methods & applications
  • preimplantation genetics
  • exome analysis
  • data collection & sharing
  • bioinformatics & interpretation
  • & more



We invited submission of abstracts for both oral and poster presentations.  Please follow the instructions on the Abstracts page of this website.  


We wish a timely release of the programme in advance of the meeting, to do this we will be VERY STRICT ON THE DEADLINE.  

We will consider poster abstracts until 31st July 2014.


Daydream Island Resort & Spa

Whitsunday Islands

QLD, Australia


As usual, we have a wonderful programme arranged. Everything is included in your registration fee except any extra drinks you may wish to purchase. 

You may view a draft schedule here.  Start and end times will not change.

Sunday 31st August

  • Arrival day
  • Registration 5.30 - 6.00 pm

Monday 1st Sept.

  • Registration 8.30 am - 9.00 am
  • Meeting Start 9.00 am
  • BBQ - by Mermaids 7.00 pm

Tuesday 2nd Sept.

  • Meeting Continues
  • Dinner - South Side of island - 7.00 pm

Wednesday 3rd Sept.

  • Meeting Continues
  • Gala Dinner - surprise venue - 7.00 pm

Thursday 4th Sept.

  • Half day meeting
  • Meeting ends 12.00 pm - in time for most flights out of Hamilton Is. airport


You may view information and register by visiting the box on the top corner right of this Website.  In addition to meals, registration includes transfers to the resort and accommodation for the nights of Sunday 31st August to Wednesday 3rd Sept. (depart 4th Sept.)  Extra nights must be booked and paid seperatly.