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D6.3v2: Genome Wide Association Study Workflows v2

Authors: Kristina Hettne; Harish Dharuri; Marco Roos;

D6.3v2: Genome Wide Association Study Workflows v2

Abstract

{"references": ["R. Palma, P. Holubowicz, G. Klyne, A. Garrido, \"Reference Wf4Ever Implementation \u2013 Phase 1. Deliverable D1.4v1, Wf4Ever Project 2012\", 2012", "T. Illig et. al., A genome-wide perspective of genetic variation in human metabolism. Nature Genetics 2010, 42(2):137-41.", "R. Jelier, P.A.C. 't Hoen, E. Sterrenburg, J.T. den Dunnen, G.J. van Ommen, J.A. Kors, B. Mons. \"Literature-aided meta-analysis of microarray data: a compendium study on muscle development and disease\". BMC Bioinformatics, vol. 9, 2008 p. 291.", "R. Jelier, J.J. Goeman, K.M. Hettne, M.J. Schuemie, J.T. den Dunnen, and P.A.C. 't Hoen, \"Literature-aided interpretation of gene expression data with the weighted global test,\" Briefings in Bioinformatics, vol. 12, 2011, p. 518-29.", "S. Bechhofer, K. Belhajjame, E. Garcia, \"Design, implementation and deployment of workflow lifecycle management components \u2013 Phase I. Deliverable D2.2v1, Wf4Ever Project 2012\", 2012", "J. Zhao, J. M. Gomez-Perez, K. Belhajjame, G. Klyne, E. Garcia-Cuesta, A. Garrido, K. Hettne, M. Roos, D. De Roure and C. Goble. \"Why workflows break - Understanding and combating decay in Taverna workflows\", 8th IEEE International Conference on eScience 2012, accepted", "E. Garcia-Cuesta, J. Zhao, G. Klyne, A. Garrido, J. M. Gomez-Perez, \"Design, implementation and deployment of Workflow Integrity and Authenticity Maintenance components \u2013 Phase I. Deliverable D4.2, Wf4Ever Project 2012\", 2012", "R. Gonzalez-Cabero, E. Garcia-Cuesta, \"Design, implementation and deployment of Workflow Evolution, Sharing and Collaboration components \u2013 Phase I. Deliverable D3.2v1, Wf4Ever Project 2012\", 2012", "M. Kanehisa, S. Goto, M. Furumichi, M. Tanabe, M. Hirakawa. KEGG for representation and analysis of molecular networks involving diseases and drugs. Nucleic Acids Res. 2010;38(Database issue):D355-60.", "T. Oinn, M. Addis, J. Ferris, D. Marvin, M. Senger, M. Greenwood, T. Carver, K. Glover, MR. Pocock , A. Wipat, P. Li. Taverna: a tool for the composition and enactment of bioinformatics workflows. Bioinformatics. 2004, 20(17):3045-54"]}

This document describes the workflows developed during phase II of the project at the Human Genetics Department of the Leiden University Medical Centre (HG-LUMC) for interpreting results from genome-wide association (GWA) studies. The main goal of this deliverable is to produce workflows. At the same time, we applied the tooling and best practices that are emerging from the project to aggregate the workflow and associated material as a preservable 'Research Object' (RO). A detailed description about the state of the current tooling can be found in D1.4v1. Workflows form a crucial part of the data to populate the RO models and software in Wf4Ever, and the HG-LUMC is committed to producing good quality workflows that can be preserved. To promote re-use and combat workflow decay, we developed Best Practices for workflow design. In this document, we describe workflows for interpreting GWA study data, Best Practices for workflow design and their relation to ROs. Finally, we characterize the workflows according to current state of workflow preservation and archived them according to the project tooling.

Wf4Ever Deliverable Identifier: oai:repo.wf4ever-project.org:42

Related Organizations
Keywords

Huntington's Disease, Metabolic Syndrome, Research Objects, GWAS, epiGenetics, workflows

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popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
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influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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