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: 2009

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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

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

Cafe Variome Wiki

This wiki aims to highlight the basic concepts of Cafe Variome, logged in members of the group are able to edit these pages. Interested individuals are encouraged to join the group and actively participate with any discussions regarding the project. ...

Wiki Page - Owen Lancaster - 15 Apr 2011 - 15:22 - 0 comments - 0 attachments - 1 group

Protein level predictions 1 - Pathogenic or not predictors

This site collects together tools which predict whether the mutation changing the amino acid of the protein is considered to increase disease  susceptibility or considered to be benign.   Contents Programs avai ...

Wiki Page - Päivi Rosenström - 6 Oct 2010 - 15:18 - 0 comments - 0 attachments - 1 group

Tools and methods for mapping genomic structural variation

   This page concentrates on tools and methods for mapping genomic structural variation. Specific to new sequencing techniques is the unprecedented speed and short read lenghts. The new tools mapping the genomic structural variation are design ...

Wiki Page - Päivi Rosenström - 6 Oct 2010 - 15:03 - 0 comments - 0 attachments - 1 group

Meta tools

Meta tools are tools which combine the analysis of several other prediction tools. Benefit of this is that the weaknesses of one program can be compensated by others and therefore the result is expected to be more reliable than obtained by individual pr ...

Wiki Page - Päivi Rosenström - 29 Sep 2010 - 10:34 - 0 comments - 0 attachments - 1 group

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