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- LSDB - Controlled vocabulary terms
Note: This is a working document. Final information will be collected into the VarioML wiki pages. Misc Evidence codes GO Evidence codes dbSNP validation codes for variants Evidence code ontology Muta ...
Wiki Page - Juha Muilu - 19 Jul 2011 - 10:36 - 6 comments - 0 attachments - 2 groups
- VarioML notes
Notes for the VarioML documentATION TODOs Indentification of submittor (source id). We should have separate registry of data submittors (LSDBs) Have standard way to reference different databases in db_xrefs and ontology terms. For e ...
Wiki Page - Juha Muilu - 18 Oct 2011 - 09:50 - 2 comments - 0 attachments - 2 groups
- Developing Prototype LOVD web services at NGRL
At the National Genetics Reference Laboratory (NGRL), Manchester we are investigating the development of prototype web services to allow machine-to machine access to LOVD data. Here, I hope to provide an overview, and record some of the issues involved ...
Wiki Page - Glen Dobson - 25 Nov 2009 - 12:50 - 14 comments - 0 attachments - 1 group
- VarioML - Pathogenicity
Pathogenicity Other information Scope can be used to define scope of the pathogenicty. Possible values are: individual, family and population Phenotype sub-elements give information on phenotype consequence(s) of the ...
Wiki Page - Juha Muilu - 8 Nov 2011 - 15:06 - 0 comments - 0 attachments - 1 group
- Data content specifications
Data Content specifications User contributed information and examples. Please check the VarioML website and GITHub for the latest information. After various iterations we ae planning to provide content spesifications in the SKOS ...
Wiki Page - Juha Muilu - 4 Nov 2011 - 09:45 - 0 comments - 0 attachments - 2 groups
- Modeling resources
UML tools and libraries ArgoUML see also UML 2.x support OWL From UML and OWL2XMI Eclipse modeling project MOSkitt TextUML - Text based UML editor for eclipse with graphviz integration XMI2 - A ...
Wiki Page - Juha Muilu - 26 Sep 2011 - 14:56 - 0 comments - 0 attachments - 0 groups
- Cafe Variome Architecture
Cafe Variome is built upon standard Web protocols and components. At the heart of Cafe Variome lies an Atom Store database (using AtomServer ), which is used to store mutation entries as they are submitted to the Cafe: A web feed is a simple XML ...
Wiki Page - Owen Lancaster - 15 Apr 2011 - 15:25 - 4 comments - 0 attachments - 1 group
- Web services and exchange formats wiki
This wiki contains documents and discussions about Gen2Phen's efforts to produce exchange formats and consistent interfaces for LSDBs. Standardising access to LSDB data is one of the core aims of Gen2Phen. Improved abilities to query, visualise a ...
Wiki Page - Administrator - 19 Jul 2011 - 08:46 - 0 comments - 0 attachments - 1 group
- Tools predicting the overal functional consequences of SNPs
This category collects together programs which evaluate the overall functional effects of SNPs. These programs commonly evaluate all the following things: intronic, 5'UTR, 3'UTR, 5-upstream. 3-downstream, splicing site and coding (synonymous or ...
Wiki Page - Päivi Rosenström - 12 Jul 2011 - 06:08 - 0 comments - 0 attachments - 1 group
- Web Service Interfaces to LSDBs - Browser Point of View
Table of Contents [ hide ] Introduction Problems Required Operations Implementation Issues This post discusses web service interfaces to Locus Specific Databases (LSDBs), from the speci ...
Wiki Page - Glen Dobson - 25 Nov 2009 - 10:00 - 4 comments - 0 attachments - 1 group