Search: Wiki Page, 2009

Background Web-services and exchange formats wiki Standards in gen2phen Implementation RelaxNG compact and XSD schema files  and examples from the svn Documentation  (see also examples). New do ...

Wiki Page - Juha Muilu - 20 Jun 2010 - 07:28 - 25 comments - 0 attachments - 0 groups

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 - 13:50 - 14 comments - 0 attachments - 1 group

  Pre-messenger RNA (pre-mRNA) splicing defects are likely to have an impact on clinical practice as these seem to have a role in almost all known diseases with genetic aetiology  (Tazi et al. 2009). It is likely that approximately 15 % of ...

Wiki Page - Päivi Rosenström - 23 Aug 2010 - 08:29 - 0 comments - 0 attachments - 1 group

     Contents Tools predicting effect of protein level changes Meta tools Tools predicting effects of problems in mRNA splicing Tools considering epistatic effects T ...

Wiki Page - Päivi Rosenström - 19 Aug 2010 - 09:52 - 0 comments - 0 attachments - 1 group

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 - 19 Aug 2010 - 09:29 - 0 comments - 0 attachments - 1 group

Changes in the stability of the protein as a result of the mutation is one important factors considered to predict the mutations ability to increase disease susceptibility. This subgroup of programs contains tools predicting whether the mutation has an ...

Wiki Page - Päivi Rosenström - 19 Aug 2010 - 09:24 - 0 comments - 0 attachments - 1 group

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 non-syn ...

Wiki Page - Päivi Rosenström - 16 Aug 2010 - 13:41 - 0 comments - 0 attachments - 1 group

Good way to detect information about positional sequence conservation is to visualize MSAs. This subgroup of tools consist of programs visualizing the MSAs, calculating conservation indices for each position in the alignment and color-coding the aligmen ...

Wiki Page - Päivi Rosenström - 12 Aug 2010 - 10:01 - 0 comments - 0 attachments - 1 group

This wiki aims to highlight the basic concepts of Cafe Rouge, 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 - 28 Jul 2010 - 16:00 - 0 comments - 0 attachments - 1 group

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 - 14 Jun 2010 - 11:01 - 0 comments - 0 attachments - 0 groups