Workshop outlines are published as submitted by the organisers. Note that the content of the workshop is under the sole responsibility of the respective workshop organisers.

Organisers: Dian Donnai; Jill Clayton-Smith, Sofia Douzgou    

The organisers of the dysmorphology workshop invite clinicians to submit rare known and unknown cases with dysmorphic syndromes before the workshop. Please bring a short case presentation on a USB stick from 14:45 - 15:15 hrs to the lecture room. Maximum time for presentation: 5‘.

Organisers: Joris Vermeesch; Erik Iwarsson    

In this workshop an overview will be provided on the status of different approaches for embryo freezing, preimplantation genetic diagnosis and preimplantation genetic aneuploidy screening. Participants who want to bring forward own work can contact the organizer.  We will engage in panel discussion on the current status of the field, the challenges and discuss the likely clinical future.

Organisers: Maurizio Genuardi, Dominique Stoppa-Lyonnet

This workshop will provide a forum for ESHG meeting attendants involved in clinical cancer genetics practice. We will share and discuss peculiar cases to highlight unusual aspects of known syndromes or to gain insights and advice on unsolved issues related to diagnosis, counseling, follow up, or laboratory findings. Presentations made on a voluntary basis by attendants who can contribute cases or case series with the above outlined characteristics are strongly encouraged. Those who wish to submit cases are invited to send a short abstract to Maurizio Genuardi (maurizio.genuardi(at)rm.unicatt.it) or Dominique Stoppa-Lyonnet (dominique.stoppa-lyonnet(at)curie.fr) by May 22, 2015. Each presentation should last not more than 5 minutes (maximum 4 slides).

Organisers: Nicole de Leeuw & Conny van Ravenswaaij-Arts

The aim of this workshop is to focus on various aspects of copy number variant (CNV) interpretation and classification in a diagnostic setting. We will talk about multi-, intra- and intergenic CNVs detected by genome wide array analysis, but also CNV detection in Whole Exome Sequencing data will be included. We will use illustrative cases from our own diagnostic laboratories to have an interactive discussion on the more challenging findings, including low-penetrant, recurrent Copy Number Variants (CNVs) and structurally rearranged chromosomal imbalances as well as patients with compound heterozygous variants in a recessive disease gene.

We will have an app-based feedback system available for this interactive session, so please bring your smart phone, tablet or laptop.

Participants are invited to send questions, comments or suggestions related to this topic by e-mail to Nicole.deLeeuw(at)radboudumc.nl before June 1, 2015.

Organiser: Robert Kuhn

The UCSC Genome Browser is a widely used visualization tool for genomic information.  This workshop will demonstrate how to upload your own information, including output from high-throughput sequencing experiments; intersect data from multiple tables, including your own; and interpret variants using the Variant Annotation Integrator.  The Genome Browser-in-a-Box may be downloaded to bring the full functionality of the Genome Browser to the desktop, eliminating the need to upload potentially sensitive data.  Participants should bring a laptop.

Organiser: H. Kääriäinen