Department presentations at the European Society of Human Genetics Meeting, Copenhagen 2017

The department will be well represented at this year's European Society of Human Genetics 50^th anniversary meeting taking place May 27-30, 2017. Oral presentations and posters are listed below. For full meeting schedule see the conference website.

Oral Presentations

Presenters are listed below. For full author list see the conference programme.

Friday, May 26th

Pauline Lanting - Implementation of pre-emptive pharmacogenomic testing with clinical decision support

Satellite Session – Implementing Pharmacogenomics in Modern Health Care 09:10-10:50 / Crown Plaza Towers Session 1 / Speaking time 10:00-10:20

Saturday, May 27th

Vasiliki Matzaraki - C01.3 A first genome-wide systems genetics approach identifies risk loci and pathways for candidaemia susceptibility

Session C01 Personalized Medicine and Pharmacogenomics 18:30-20:00 / Room Aarhus / Speaking time 19:00-19:15

Tanya Halbersma - C06.4 Recontact about clinically significant variant reclassifications in cardiogenetics; patient experiences

Session C06 ELSI genomics 18:30-20:00 / Room Cologne / Speaking time 19:15-19:39

Sunday, May 28th

Kristin Abbott - Data sharing - How to make the most of your data through collaborations

Agilent Technologies satellite session: Alissa; The next evolution of Cartagenia applications & how the Netherlands is leading the way 11:15-12:45 / Room Brussels / Speaking time 11:45-12:15

Jingyuan Fu - C10.1 Systems Genetics and Transcriptome analysis on Circulating Proteins

Session C10 GWAS: Resolving Missing Causality 13:00 – 14:30 / Room Cannes / Speaking time 13:00 – 13:15

Cisca Wijmenga - The Human Functional Genomics Project: towards understanding human immune function

Illumina satellite workshop: There's nothing more personal than genomics 19:00-21:00 / Room Ballerup

Monday, May 29th

Sasha Zhernakova - S12.3 Genetics of the microbiome

Session S12 From Association to Causality in complex diseases 08:15-10:45 / Room Alicante

Arnau Vich Villa - C18.2 The microbiome of inflammatory bowel disease and irritable bowel syndrome – a case-control study of 1792 individuals

Session C18 Internal organs 13:00-14:30 / Room Amsterdam / Speaking time 13:15-13:30

Conny van Ravenswaaij–Arts, Workshop co-organiser - W14 Copy Number Variant Interpretation and Classification

15:00-16:30   Room Copenhagen

Tuesday May 30th

Conny van Ravenswaaij–Arts, discussion chair - ESHG-Quality Subcommittee: Forum of EQA providers; working together to improve diagnostic performance

9:00-12:00 Meeting room 17

Conny van Ravenswaaij–Arts - C19.5 External Quality Assessment of Clinical Genetics: from pilot assessment to full EQA scheme

Session C19 - Diagnostic variant interpretation and quality control 11:00-12:30 / Room Aarhus / Speaking time 12:00-12:15

Raúl Aguirre-Gamboa - C22.3 Deconvolution of whole blood eQTLs into rare immune-subpopulations uncovers key players of immune mediated diseases

Session C22 - Systems Genetics 11:00-12:30 / Room Cannes / Speaking time 11:30-11:45

Annique Claringbould - C22.5 Trans-eQTL analysis in 25,000 individuals reveals clear differences between diseases in the types and number of causally involved biological pathways

Session C22 - Systems Genetics 12:00-13:30 / Room Cannes / Speaking time 13:00-13:15

Poster presentations

Posters will be on display from 09:30 Saturday, May 27 to 17:45 Monday, May 29. Presenters will be available at their posters during the time intervals indicated. For full author list click on the title.

Poster Group A: 10.15-11.15 Sunday, May 28

Sebo Withoff P03.05A - Circulating miRNAs as predictive biomarkers of celiac disease development

Erica Gerkes P09.037A - Colpocephaly in Chudley-McCullough syndrome

Corien Verschuuren P09.089A - A comprehensive NGS gene-panel for rapid DNA diagnosis of inherited late onset ataxia

Dineke Verbeek P09.109A - Autosomal dominant progressive myoclonus dystonia resulting from a PANK2 mutation

Aafke Engwerda P11.097A - Unravelling proximal 6q deletions with the help of Facebook

Irene van Langen P19.49A - Feasibility of couple-based expanded preconception carrier screening offered by the general practitioner

Poster Group B: 16.45-17.45 Sunday, May 28

Juliette Schuurmans P01.034B - Couple-based expanded preconception carrier screening (ECS) offered by the general practitioner: what is the uptake and who participates?

Mirjam Plantinga P15.26B - Personalized medicine via Pharmacogenetics: Investigating critical success factors for clinical implementation

Poster Group C: 10.15-11.15 Monday, May 29

Biljana Atanasovska P06.23C - Functional genomics of stimulated human hepatocytes revealed long non-coding RNAs involved in liver inflammation

Sipko van Dam P14.063C - Diagnosing unsolved patients by combining DNA sequencing with bloodtranscriptomics

Poster Group D: 16.45-17.45  Monday, May 29

Jorieke van Kammen-Bergman P01.024D - Beta-blocker use in pregnancy and risk of specific congenital anomalies: a European case-malformed control study

Yvonne Hoedemaekers P05.16D - Diagnostic yield of three years next generation sequencing in clinical genetic diagnostics of cardiomyopathies

Anne Herkert P05.20D - A diagnostic odyssey in paediatric dilated cardiomyopathy: WES yields a diagnosis in more than one-third of patients

Freerk van Dijk P17.08D - Pathogenic SNPs with allelic imbalance show higher expression in the major allele

Also attending

Evelien Zonneveld-Huijssoon, Rolf Sijmons, Joke Verheij, Fleur Vansenne, Mirjam de Jong, Paul van der Zwaag, Lieke Berger, Patrick Rump, Richard Sinke, Leonie Piso