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: 2009

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Exchange format for LSDBs

Hi All We have been discussing with Ivo about the data format and getting into following proposal: - Use xml-elemnts and not attributes, due to extendability etc. - Add separate elements for variation aliases and sequence changes. The latter one ...

Post - Juha Muilu - 25 Nov 2009 - 09:35 - 25 comments - 0 attachments - 1 group

LSDB minimal requirements (D3.4), compared to LOVD and the LSDB XML format

See the current XML format: http://www.gen2phen.org/wiki/lsdb-xml-data-format and workshop notes: http://www.gen2phen.org/post/lsdb-minimal-requirements-johan-discussion-... See also other LSDB/G2P check list This list is a ma ...

Post - Ivo F.A.C. Fokkema - 4 Feb 2011 - 12:37 - 16 comments - 0 attachments - 1 group

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

Cafe Variome Development

Description: Working group for Cafe Variome and KC integration C a f e Variome , is a central Internet depot or 'clearinghouse' for mutation data. The aim of the Cafe is to facilitate publication of data from diagn ...

Public group - Adam Webb - 27 Oct 2011 - 09:50 - 0 comments - 0 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

Development of LOVD RESTful / Atom webservice

(updated 2009-10-22; includes gene listing and some updates to the output format) (updated 2009-12-27; described new additions and genomic locations) (updated 2010-02-15; described new additions and world-wide LOVD querying service) (updated 2010-0 ...

Post - Ivo F.A.C. Fokkema - 20 Apr 2010 - 11:16 - 8 comments - 0 attachments - 1 group

Web service architecture: simple REST vs complex SOAP

In recent years a battle-of-sorts has been raging in Web developer circles between proponents of two main web service architecture styles:  Simple Object Access Protocol (SOAP) on one hand and  REpresentional State Transfer (REST) on the ...

Post - Gudmundur A Thorisson - 25 Nov 2009 - 12:59 - 6 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

Describing complex sequence variants by extending HGVS

Dissemination number:  188 Taschner P E M, den Dunnen J T. Describing complex sequence variants by extending HGVS sequence variation nomenclature. Abstract. ISMB Confere ...

Dissemination Activity - Acacia Reiche - 14 Jul 2011 - 16:01 - 0 comments - 0 attachments - 0 groups

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