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.
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.
W03 Career development and funding opportunities for young investigators, 10:30 – 12:00.
Vinod Kumar Magadi Gopalaiah
C04.2 Genome-wide association study identifies 15 novel genetic variants contributing to variation in cytokine levels, 18:45.
C04.3 Genetic variants regulate adaptive and innate immune cell levels in the healthy Dutch population, 19:00.
S01.1 Public understanding of risk/how to interpret big data, 08:30 – 10:00.
S04.2 Population biobanks: a crucial hub in clinical research, 08:30 – 10:00.
C07.1 Rapid screening of severely ill newborns and infants using whole genome sequencing, 13:00.
Conny van Ravenswaaij
Session:P08 – Intellectual Disability, Effect of intranasal insulin on development in Phelan-McDermid syndrome: a randomized, double-blind, placebo-controlled trial
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
P20.17A The offer of expanded preconception carrier screening to couples: are there differences in views within couples and do views change after discussion?
Niek de Klein
P16.66B Genotyping of all public RNA-sequencing data for large scale trans-QTL and ASE study
P09.062B Diagnostic targeted next generation sequencing in patients with epilepsy
P16.50B Altered gene expression associated with microRNA binding site polymorphisms
Sandi Dheensa, Tanya Halbersma-Konings, Irene van Langen and Anneke Lucassen, W18 Telemedicine and web consultation/The recontacting app: a practical demonstration, 15:00
P12.055C A heritable form of SMARCE1-menigiomas with important implications for follow-up and family members
P16.23C A statistical framework for cell level predictions and eQTL deconvolution
Alex K urilshchikov
Estimating interaction of host genetics to the microbiome structure on the large Dutch population cohort
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
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.
C22.2 Whole exome sequencing identifies ALPK3 as a new disease gene causing both severe paediatric and ‘milder’ adult-onset cardiomyopathies, 11:15.
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