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Items tagged with "snp" (21)

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Files (4)

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Paul Fisher

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Table of SNP sequenceing results

Created: 2009-04-08 13:29:32

Credits: Paul Fisher

License: Creative Commons Attribution-Share Alike 3.0 Unported License

This file contains the results of re-sequencing the Daxx gene

File type: Word document

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Paul Fisher

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Re-sequenced Daxx gene info

Created: 2009-04-08 17:53:46 | Last updated: 2009-08-10 12:30:59

Credits: Paul Fisher

License: Creative Commons Attribution-Share Alike 3.0 Unported License

This spreadsheet contains information about the re-sequencing of the daxx gene, identified as a candidate QTg for the African Trypanosomiasis resiatance phenotype. This file is related to the paper: http://www.ncbi.nlm.nih.gov/pubmed/17709344

File type: Excel workbook

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Paul Fisher

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Bilateral Perisylvian Polymicrogyria (Epilepsy)

Created: 2010-12-07 16:34:31 | Last updated: 2010-12-07 16:34:37

Credits: Paul Fisher

License: Creative Commons Attribution-Share Alike 3.0 Unported License

This zip file contains the results of running a QTL workflow for Bilateral Perisylvian Polymicrogyria in human (homo sapiens). Provided are a list of candidate QTL genes (QTg) and their corresponding KEGG pathways. Each gene and pathway have been subsequently run through a series of text mining workflows to determine the significance of each may play in relation to Bilateral Perisylvian Polymicrogyria AND/OR Epilepsy. Further to this, I have also collected the SNPs (single nucleotide...

File type: application/x-zip-compressed

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bilateral perisylvian polymicrogyria
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cosine vector space
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data-driven
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epilepsy
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gene identifier
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geneid
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genotype
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homo sapiens
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human
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literature
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pathway
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pathway-driven
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pathways
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phenotype
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pubmed
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re-use
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region
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snp
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snps
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text
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text mining
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text mining; term extraction; entity recognition

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Paul Fisher

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Bilateral Perisylvian Polymicrogyria - Single Nucleo...

Created: 2011-03-17 11:21:06 | Last updated: 2011-03-17 11:21:12

Credits: Paul Fisher

License: Creative Commons Attribution-Share Alike 3.0 Unported License

This file contains a list of all the SNP found with the Villard et al., (2002) QTL for Bilateral Perisylvian Polymicrogyria. Please download this data as you wish, and use in whatever study you like. The data is open access, and freely available for all to use to help undertand this condition. Genes related to these SNP can be found in the file http://www.myexperiment.org/files/466.

File type: ZIP archive

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Packs (1)

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Kristina Hettne

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Functional annotation of SNPs using next-generation ...

Created: 2012-06-26 10:41:38 | Last updated: 2015-09-01 14:31:18

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 ...

12 items in this pack

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Tags:

concept
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ensembl
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evidence
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gene
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GO
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literature
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ontology
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profile
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snp

Workflows (16)

Taverna 1

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snpNeighbours (1)

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My first Taverna workflow: the input is the SNP "rs25". The Web Services invoked finds its position on the human genome and find its neighbours at 100bp. The XML result is then saved to a local file. The web services used here are under developpement and might be turned off in a near future.

Created: 2009-05-14 | Last updated: 2009-05-14

Credits: PL

Taverna 2

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Mark Wilkinson

DataBiNS with Kegg ID (3)

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Consumes a KEGG gene id and mines for pathway, GO, PubMed and SNP information about that gene

Created: 2009-07-09 | Last updated: 2010-11-22

Credits: Mark Wilkinson Fong Chun Chan

XProc

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Query dbsnp, transform to HTML (1)

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This is a XProc worklow. Its input is a list of Entrez queries packed in a html list: See http://plindenbaum.blogspot.com/2009/05/xml-pipelines-xproc-for-bioinformatics.html "snp_gene_clin"[Filter] AND "snp_pubmed_cited"[Filter] AND 2[CHR] (1000[CHRPOS] : 5000[CHRPOS]) AND 2[CHR] AND "homo sapiens"[Organism] it queries entrez, download the SNPs as XML and transform the result as an HTML table: r...

Created: 2009-05-21 | Last updated: 2009-05-21

Credits: PL

Taverna 2

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wabi

Nucleotide frequency workflow (2)

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No description

Created: 2010-05-13 | Last updated: 2010-11-12

Credits: wabi

BioExtract Server

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Yosr Bouhlal

Biomart SNP (1)

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Normal 0 false false false EN-US X-NONE AR-SA /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyl...

Created: 2011-06-20 | Last updated: 2011-07-05

Credits: Yosr Bouhlal

KNIME

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The NOTCH2 workflow (1)

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Analysis of the exome sequencing data for the following article: Nat Genet. 2011 Mar 6;43(4):306-8. Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Isidor B, Lindenbaum P, Pichon O, Bézieau S, Dina C, Jacquemont S, Martin-Coignard D, Thauvin-Robinet C, Le Merrer M, Mandel JL, David A, Faivre L, Cormier-Daire V, Redon R, Le Caignec C. using knime4bio

Created: 2011-09-06 | Last updated: 2011-09-06

Credits: PL

Taverna 2

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Paul martin

Define Associated Regions and Genes (2)

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Defines regions and genes from associated SNPs A JAVA MySQL connector is required to run the workflow and must be placed in the $TAVERNA_HOME/lib directory.

Created: 2012-02-08 | Last updated: 2012-05-09

Credits: Paul martin

Taverna 2

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Katy Wolstencroft

SNP Position Information (1)

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This workflow extracts information about the position of SNPs and the genes they are associated with, using BioMart (ENSEMBL Variation 66).

Created: 2012-04-17 | Last updated: 2012-04-17

Credits: Katy Wolstencroft

Taverna 2

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Kristina Hettne

SNP_ID2EntrezGene_ID (4)

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Purpose: The workflow maps a SNP (dbSNP id) to a gene (EntrezGene id). Author comments: The window for gene inclusion can be set using the set_width parameter. This workflow can be used together with other workflows in this pack: http://www.myexperiment.org/packs/282 for functional gene and SNP annotation and knowledge discovery.

Created: 2012-06-26 | Last updated: 2013-03-11

Credits: Kristina Hettne Harish Dharuri

Taverna 2

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Kristina Hettne

SNPs to Concept Set through Concept Profil... (6)

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Purpose: Currently, this workflow takes one SNP and a concept set as input, calculates the matching score between these, finds co-occuring documents between the query concept and the match concept, finds the concept that contributes the most to the match, and the documents that support this finding. Author comments: The workflow is in Beta stage. It runs, but needs more testing with different parameter settings. This workflow can be used together with other workflows in this pack: http://www...

Created: 2012-06-26 | Last updated: 2013-02-05

Credits: Kristina Hettne Eleni Harish Dharuri Reinout van Schouwen Marco Roos Martijn Schuemie BioSemantics

Attributions: Find Supporting Documents SNP_ID2EntrezGene_ID DatabaseID to ConceptID Match gene lists based on information in literature Match concept profiles Explain concept scores

Taverna 2

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Marco Roos

Mining the Kegg pathway database with the ... (1)

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Genome-Wide Association studies (GWAS) with metabolomic phenotypes yield several statistically significant SNP-metabolite associations. To understand the biological basis of the association, scientists typically dwell on identifying genes in the vicinity of the SNP and the possible pathways that the gene participates in. The information needed to arrive at an understanding of the mechanistic basis of the association requires integration of disparate data sources. The purpose of this workflow ...