lovd & ithanet: synergies and plans under gg2020 - carsten w lederer
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The Cyprus Institute of Neurology and Genetics
LOVD & ITHANET – Synergies and Plans under GG2020Carsten W. LedererThe Cyprus Institute of Neurology and Genetics The Cyprus School of Molecular [email protected]
http://www. relationology.co.uk
UNESCO HeadquartersParis, France
30 – 31st May 2016
Human Variome Project Consortium
6th Biennial Meeting GG2020 Fringe Meeting
The Cyprus Institute of Neurology
and GeneticsKey Characteristics LOVD
LOVD-localised HBB variant database already with data form >7000individuals (>18.500 variants)
Standardised entry of variant-related data Sequence variants, including large (gene-spanning) indels Individual and clinical data Support for SSL-access Cooperativity Batch import, including NGS import with automated gene/transcript setup
ITHANET/IthaGenes Complementary web environment for target group(s) Seamlessly “disease-specific” (disease-specific, rather than locus-specific) Visualisation of sequence context Map display
Visualisation of epidemiology Contributor/publication-specific display: comparison of findings and trends
Integration and formatted display of multimedia content CE-HPLC [e-Education content]
Genotype-phenotype databasewww.lovd.nl
www.ithanet.eu
The Cyprus Institute of Neurology
and GeneticsSynergies for GG2020
LOVD Familiar interface Secure and stable data entry point Training of partners for all LOVD-based databases
ITHANET Content customisation Meta-analyses
Visualisations (Maps, HPLC, other) [Statistical analyses (Summary data)]
Interactive tools [Prediction of disease severity] [Suggestion of underlying variants]
http://http://www.condenaststore.com/
The Cyprus Institute of Neurology
and GeneticsThe Envisaged Database Molecular per gene as standard Which variants to include? – All Which genes to include? – All?! Which non-molecular data to include? – All???
Consider the human aspect of medical data entry Fields left blank for many entries become worthless
or ?
Spartan? Lucullan?
The Cyprus Institute of Neurology
and GeneticsLocal LOVD Installation in Cyprus
The Cyprus Institute of Neurology
and GeneticsCurrent ITHANET Genotype-Phenotype Database
The Cyprus Institute of Neurology
and GeneticsCurrent ITHANET Genotype-Phenotype Database
The Cyprus Institute of Neurology
and GeneticsSuggested Fields
The Cyprus Institute of Neurology
and GeneticsSuggested Fields
The Cyprus Institute of Neurology
and GeneticsSuggested Fields
The Cyprus Institute of Neurology
and GeneticsSuggested Fields
The Cyprus Institute of Neurology
and GeneticsSuggested Fields
The Cyprus Institute of Neurology
and GeneticsSuggested Fields
The Cyprus Institute of Neurology
and GeneticsWhat next? G6PD-deficiency data fields pending. Decision on required and optional fields. Decision on how to integrate LOVD and the ITHANET Portal Decision on collection strategy (personnel/online/offline). Addressing the elephant that is (NOT) in the room.
Your input pending and essential!
Digital Registries
https://en.wikipedia.org/wiki/Elephant_in_the_room
The Cyprus Institute of Neurology
and GeneticsGlobal Globin 2020 Challenge
It is good you are here!
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Barabasi & Bonabeau 2003 PMID12701331
The Cyprus Institute of Neurology
and Genetics
This project has received funding from the European Union’s Sixth and Seventh Framework Programmes for research, technological development and demonstration under grant agreement nos. 26539 (ITHANET) and 306201 (ThalaMoSS) and from the Cypriot Government as core funding and through the Research Promotion Foundation of Cyprus.
Acknowledgements CING & ITHANET
Marina Kleanthous Petros Kountouris Pavlos Fanis Coralea Stephanou Xenia Feleki
GG2020 Helen Robinson Zilfalil bin Alwi Raj Ramesar
LOVD Johan T. den Dunnen
All our collaborators and patients!
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