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UG/UMCG Genetics at the 2016 European Human Genetics Conference *Updated*

19 May 2016

Update: Awards for two papers

Two papers by authors in our department have received European Journal of Human Genetics awards. These will be presented during Plenary session PL5 (14:15 - 15:45) on Tuesday 24 May.

3rd prize in the junior authors' high citation award:

Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'

Deelen P, Menelaou A, van Leeuwen EM, Kanterakis A, van Dijk F, Medina-Gomez C, Francioli LC, Hottenga JJ, Karssen LC, Estrada K, Kreiner-Møller E, Rivadeneira F, van Setten J, Gutierrez-Achury J, Westra HJ, Franke L, van Enckevort D, Dijkstra M, Byelas H, van Duijn CM; Genome of Netherlands Consortium, de Bakker PI, Wijmenga C, Swertz MA.

Eur J Hum Genet. 2014 Nov;22(11):1321-6.

Special award for citations:

The Genome of the Netherlands: design, and project goals

Boomsma DI, Wijmenga C, Slagboom EP, Swertz MA, Karssen LC, Abdellaoui A, Ye K, Guryev V, Vermaat M, van Dijk F, Francioli LC, Hottenga JJ, Laros JF, Li Q, Li Y, Cao H, Chen R, Du Y, Li N, Cao S, van Setten J, Menelaou A, Pulit SL, Hehir-Kwa JY, Beekman M, Elbers CC, Byelas H, de Craen AJ, Deelen P, Dijkstra M, den Dunnen JT, de Knijff P, Houwing-Duistermaat J, Koval V, Estrada K, Hofman A, Kanterakis A, Enckevort Dv, Mai H, Kattenberg M, van Leeuwen EM, Neerincx PB, Oostra B, Rivadeneira F, Suchiman EH, Uitterlinden AG, Willemsen G, Wolffenbuttel BH, Wang J, de Bakker PI, van Ommen GJ, van Duijn CM.

Eur J Hum Genet. 2014 Feb;22(2):221-7.

Schedule of presentations and workshops

Members of our staff are involved in 22 presentations and two workshops this year. The names below are the designated presentors. Please see the conference programme for the full list of study authors.

Friday, May 20

Conny van Ravenswaaij, moderator + cases, Interpretation in challenging cases of clinical exome and genome sequencing, EuroGentest satellite meeting on Quality assurance in interpretation and reporting in genome wide diagnostics, 15:15.

Lude Franke, Identifying drug-targetable key drivers of disease, Machine Learning for Personalized Medicine, satellite meeting, 13:30.

Saturday, May 21

Workshop

Lude Franke W03 Career development and funding opportunities for young investigators, 10:30 – 12:00.

Oral Presentations

Vinod Kumar Magadi Gopalaiah C04.2 Genome-wide association study identifies 15 novel genetic variants contributing to variation in cytokine levels, 18:45.

Raúl Aguirre-Gamboa C04.3 Genetic variants regulate adaptive and innate immune cell levels in the healthy Dutch population, 19:00.

Sunday, May 22

Oral Presentations

Anneke Lucassen S01.1 Public understanding of risk/how to interpret big data, 08:30 – 10:00.

Cisca Wijmenga S04.2 Population biobanks: a crucial hub in clinical research, 08:30 – 10:00.

Birgit Raddatz C07.1 Rapid screening of severely ill newborns and infants using whole genome sequencing, 13:00.

Poster Presentations 10:15 – 11:15

Conny van Ravenswaaij Session:P08 – Intellectual Disability, Effect of intranasal insulin on development in Phelan-McDermid syndrome: a randomized, double-blind, placebo-controlled trial

Mieke Kerstjens P05.53A From Facebook to gene: how social media helped to find a gene for a cardiac disease               

Freerk van Dijk P14.021A CoNVaDING: single exon variation detection in targeted NGS data

Mirjam Plantinga P20.17A The offer of expanded preconception carrier screening to couples: are there differences in views within couples and do views change after discussion?

Poster Presentations 16:45 17:45                      

Niek de Klein P16.66B Genotyping of all public RNA-sequencing data for large scale trans-QTL and ASE study

Patrick Rump P09.062B Diagnostic targeted next generation sequencing in patients with epilepsy

Urmo Võsa P16.50B Altered gene expression associated with microRNA binding site polymorphisms

Monday, May 23

Workshop

Sandi Dheensa, Tanya Halbersma-Konings, Irene van Langen and Anneke Lucassen, W18 Telemedicine and web consultation/The recontacting app: a practical demonstration, 15:00

Poster presentations 10.15 11.15

Erica Gerkes P12.055C A heritable form of SMARCE1-menigiomas with important implications for follow-up and family members

Yang Li P16.23C A statistical framework for cell level predictions and eQTL deconvolution

Alex K urilshchikov P16.47C Estimating interaction of host genetics to the microbiome structure on the large Dutch population cohort

Poster presentations 16:45 – 17:45

Joeri van der Velde P14.056D Gene-based variant classifier to assist medical sequencing

Sipko van Dam P16.32D Gene expression data signal correction to identify disease gene signals

Marc Jan Bonder P16.48D The effect of host genetics on the gut microbiome

Tuesday, May 24

Oral presentations

Jan Voorwinden EPL7.2 What determines decision-making in preconception carrier screening and can it be influenced with message framing and narrative information? Breaking News Session 09:00 – 10:30.

Peter van den Akker C21.1 Antisense oligonucleotide-mediated exon skipping as a potential systemic treatment for recessive dystrophic epidermolysis bullosa, 11:00.

Anne Herkert C22.2 Whole exome sequencing identifies ALPK3 as a new disease gene causing both severe paediatric and ‘milder’ adult-onset cardiomyopathies, 11:15.

Last modified:23 May 2016 2.19 p.m.

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