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Identification of Disease-Related Genes Using a Genome-Wide Association Study Approach

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Disease Gene Identification

Part of the book series: Methods in Molecular Biology ((MIMB,volume 1706))

Abstract

Genome-wide association studies (GWAS) provide a hypothesis-free approach to discover genetic variants contributing to the risk of a certain disease or disease-related trait. Ongoing efforts to annotate the human genome have helped to localize disease-causing variants and point to mechanisms by which genetic variants might exert functional effects. By integrating bioinformatics approaches with in vivo and in vitro genomic strategies to predict and subsequently validate the functional roles of GWAS-identified variants, disease-related pathways can be characterized, providing new possibilities for therapeutic intervention. Here, we describe a basic workflow, from sample preparation to data analysis, for performing a GWAS to identify disease genes. We also discuss resources for the annotation and interpretation of GWAS results.

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Acknowledgments

We would like to cordially thank Peter Kovacs, head of the research group Genetics of Obesity and Diabetes, and our colleagues for their everlasting scientific and personal support.

Funding: Tobias Wohland is funded by the IFB AdiposityDiseases (AD2-6E95). Dorit Schleinitz is funded by the Boehringer Ingelheim Foundation and by a Collaborative Research Center (C1, CRC1052).

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Authors and Affiliations

  1. IFB AdiposityDiseases, Leipzig University Medical Center, University of Leipzig - Medical Faculty, Liebigstrasse 19-21, 04103, Leipzig, Germany

    Tobias Wohland & Dorit Schleinitz

  2. Clinic and Policlinic for Endocrinology and Nephrology, Leipzig University Medical Center, Leipzig, Germany

    Dorit Schleinitz

Authors
  1. Tobias Wohland
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  2. Dorit Schleinitz
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Correspondence to Dorit Schleinitz .

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Editors and Affiliations

  1. Translational Genomics Research Institute, Phoenix, Arizona, USA

    Johanna K. DiStefano

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Wohland, T., Schleinitz, D. (2018). Identification of Disease-Related Genes Using a Genome-Wide Association Study Approach. In: DiStefano, J. (eds) Disease Gene Identification. Methods in Molecular Biology, vol 1706. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-7471-9_7

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  • DOI: https://doi.org/10.1007/978-1-4939-7471-9_7

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  • Publisher Name: Humana Press, New York, NY

  • Print ISBN: 978-1-4939-7470-2

  • Online ISBN: 978-1-4939-7471-9

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