It is our pleasure to invite you to attend and participate in the HVP/HUGO Variant Detection Training Course - "Variant Effect  Prediction".The biennial Mutation Detection Training Courses were initiated by Prof. Richard Cotton in 1998, alternating with the biennial International Workshops on Mutation Detection. The original training courses were focussed on the laboratory technologies to detect changes in DNA  Since the NGS revolution shifted the problem from detecting variants to evaluating their potential consequences (classification), we have shifted the focus to "Variant Effect Prediction". 

The next training course in the series has been arranged to take place from the 31st October to the 3rd November in Heraklion, Crete, Greece. The course will be a mix of theory and practice presented by invited expert speakers and abstract-selected participant contributions. Participants are stimulated to submit an abstract related to the topic of the course, e.g. the workflow followed, practical problems, solutions developed, etc. Practical sessions will be a mix of academic and commercial demonstrations giving course participants hands-on experience with computational analysis tools.

Expected Participants are people working in a DNA laboratory including clinical diagnostic labs involved in DNA sequencing data analysis. Participants are expected to bring their own laptop (PC or Mac) as this will be needed for the Course.

Expected knowledge - basic knowledge of molecular biology (DNA, RNA, protein), molecular biology lab technologies (esp. sequencing) and (human) genetics.

Speakers

• Johan T. den Dunnen (Leiden, Nederland) Chair

• Andreas Laner (Munich, Germany)

• Steve Laurie (RD Connect)

• Joanne Traeger-Synodinos (Athens, Greece)

• Sebastian Kohler (Berlin, Germany)

• Robert Kuhn (UCSC genome browser. Santa Cruz, CA, USA)

• Christophe Beroud (RD Connect)

• Helen Sparrow  (EBI, Hinxton, UK)

• Anna Benet-Pages (Munich, Germany)

Confirmed Demonstrations

• Alamut (Interactive Biosoftware)

• Ensembl browser (EBI)

• RD-Connect tools

• UCSC Genome browser (UCSC)

• HGVS nomenclature and Mutalyzer

• the LOVD platform; data submission & retrieval

• Sophia Genetics tools

• VarAFT & UMD Predictor

• HPO (Phenomizer) & WES/WGS analysis using Exomiser

Program

Schedule is below.  You can see the final program here. 

Topics

Day 1 - The basics

Day 2 - Gathering information

Day 3 - Predicting consequences and variant classification

Day 4 - Functional testing and reporting

Monday 31 October

• Registration 11.30 - 13.00
• Course Start 13.00
• Welcome Reception at Hotel

Tuesday 1st November

• Full day meeting

Wednesday 2nd November

• Full day meeting
• Conference dinner at Peskesi

Thursday 3rd November

• Half day meeting
• Course Finish at 12.30

Demonstrations

Hands-on company demonstrations will be held.  

                       ALAMUT                          

Abstracts

Closing Date 15th August 2016

We invite abstracts to be submitted to the meeting within the theme of variant effect prediction for consideration as both oral and poster presentations.  Please see the Abstract tab above for instructions on formatting and how to submit.  As this is a training course, there will be only limited numbers of abstracts chosen for oral presentation.

You do not need to submit an abstract to attend.

Venue

Capsis Astoria Heraklion Hotel

Plateia Eleftherias

Heraklio (Iraklio), Crete, Greece

http://www.capsishotels.gr/en/heraklion-en

Accommodation

ALL registrations include 3 nights accommodation including buffet breakfast in one of two room types and can be single or twin share. The nights are arrive 31st October and depart 3rd November.  You can extend your booking by a little if you wish, if the nights show unavailable please ask the secretariat.