Pack: Functional annotation of SNPs using next-generation text mining
Title: Functional annotation of SNPs using next-generation text mining
Description
This pack implements the concept profile matching pipeline in the knowledge discovery tool Anni (http://biosemantics.org/anni), and adapts it to interpret the top SNPs from a GWAS. The underlying literature and concept profile databases are the same as the for the current version of Anni (2.1).
The pack consists of three main workflows (http://www.myexperiment.org/workflows/2999, http://www.myexperiment.org/workflows/2973, http://www.myexperiment.org/workflows/2972). Workflow 2999 returns a list of available concept sets to match the SNPs against. As an example, the concept set GO biological processes is used. Workflow 2973 consist of nine nested workflows (eight different components in the pack, for which one is used twice within the main workflow for different purposes). It reuses the SNP to Entrez gene identifier part of this workflow: http://www.myexperiment.org/workflows/3124, here implemented as a separate workflow (http://www.myexperiment.org/workflows/2971). Workflow 2973 takes a SNP ID and a set of GO biological processes as input together with a set of parameter settings. The outputs give the following information: 1) information about the GO biological process with the highest matching score against the SNPs, 2) if there are any co-occurring documents supporting this finding, and 3) the concepts contributing most to the match (intermediate concepts). The output parameters can be saved in Taverna as an Excel sheet together with the input parameters for interpretation. Documents supporting the relation with the intermediate concepts contributing most to the match can be retrieved with workflow http://www.myexperiment.org/workflows/2972.
Items (12)
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Workflow: DatabaseID to ConceptID (Marco Roos)
Added by Kristina Hettne ... more than 1 year ago (2012-06-26 12:55:35)
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Workflow: Explain concept scores (Reinout van Schouwen)
Added by Kristina Hettne ... more than 1 year ago (2012-06-26 12:56:53)
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Workflow: Filter concepts with profiles (Kristina Hettne)
Added by Kristina Hettne ... more than 1 year ago (2012-09-14 10:20:07)
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Workflow: Find co-occurring documents (Kristina Hettne)
Added by Kristina Hettne ... more than 1 year ago (2012-07-13 07:50:41)
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Workflow: Find Supporting Documents (Kristina Hettne)
Added by Kristina Hettne ... more than 1 year ago (2012-06-26 11:29:02)
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Workflow: Get Concept IDs (Kristina Hettne)
Added by Kristina Hettne ... more than 1 year ago (2012-07-06 14:23:48)
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Workflow: Get concept information (Kristina Hettne)
Added by Kristina Hettne ... more than 1 year ago (2012-07-06 14:23:22)
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Workflow: List Concept Sets (Kristina Hettne)
Added by Kristina Hettne ... more than 1 year ago (2012-07-06 14:26:23)
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Workflow: Match concept profiles (Marco Roos)
Added by Kristina Hettne ... more than 1 year ago (2012-06-26 12:57:59)
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Workflow: Match concept profiles with predefined set (Kristina Hettne)
Added by Kristina Hettne ... more than 1 year ago (2013-02-05 21:18:52)
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Workflow: SNPs to Concept Set through Concept Profile Matching v2 (Kristina Hettne)
Added by Kristina Hettne ... more than 1 year ago (2012-06-26 10:42:02)
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Workflow: SNP_ID2EntrezGene_ID (Kristina Hettne)
Added by Kristina Hettne ... more than 1 year ago (2012-06-26 11:29:13)
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12 items in this pack
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Tags from Items (38)
- anni
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- annotation
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- association
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- bioinformatics
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- biological
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- biosemantics
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- concept
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- concept mining
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- database
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- demo
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- discovery
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- ensembl
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- entrez
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- evidence
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- filtering
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- gene
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- genes
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- genetic
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- GO
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- identifier
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- information
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- internal
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- interpretation
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- list
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- literature
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- ncbi
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- ontologies
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- ontology
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- phenotype
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- profile
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- retrieve
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- semantic
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- similarity
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- snp
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- statistics
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- text mining
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- variation
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- wf4ever
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