Snapshot of the Pack: Functional annotation of SNPs using next-generation text mining

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Pack Details

Title Functional annotation of SNPs using next-generation text mining
Items 12
Created by Kristina Hettne
Created at 10:41:38 on Tuesday, 26 June 2012
Last updated at 14:31:18 on Tuesday, 01 September 2015

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 .


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