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Assessment and Validation of New Genetic Variants: A Systematic In Silico Approach

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Book cover Molecular Genetics of Asthma

Part of the book series: Methods in Molecular Biology ((MIMB,volume 1434))

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Abstract

The application of new high-throughput technologies to the study of asthma and other complex diseases is providing a huge amount of genetic information. Particularly, next-generation sequencing generates thousands of variants that have not been previously related to the studied diseases. These new genetic variants require validation both at methodological and clinical level. In this sense, for methodological validation the capillary electrophoresis (CE) sequencing based on Sanger technique continues to be the reference technique. The aim of this chapter is to provide a systematic approach of the in silico procedures to the confirmation of the new genetic variants and to their assessment for the pathogenic condition determination.

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Authors and Affiliations

  1. Department of Clinical Biochemistry, University Hospital of Salamanca, Paseo de San Vicente 58, Salamanca, 37007, Spain

    Belén García-Berrocal & María Isidoro-García

  2. Salamanca Institute for Biomedical Research (IBSAL), University Hospital of Salamanca, Salamanca, Spain

    Belén García-Berrocal & Asunción García-Sánchez

  3. Department of Biomedical and Diagnostic Sciences, University of Salamanca, Salamanca, Spain

    Asunción García-Sánchez

  4. Salamanca Institute for Biomedical Research (IBSAL), Salamanca, Spain

    María Isidoro-García

  5. Department of Medicine, University of Salamanca, Salamanca, Spain

    María Isidoro-García

Authors
  1. Belén García-Berrocal
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  2. Asunción García-Sánchez
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  3. María Isidoro-García
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Corresponding author

Correspondence to María Isidoro-García .

Editor information

Editors and Affiliations

  1. Department of Clinical Biochemistry, University Hospital of Salamanca, Salamanca, Spain

    María Isidoro García

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© 2016 Springer Science+Business Media New York

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García-Berrocal, B., García-Sánchez, A., Isidoro-García, M. (2016). Assessment and Validation of New Genetic Variants: A Systematic In Silico Approach. In: Isidoro García, M. (eds) Molecular Genetics of Asthma. Methods in Molecular Biology, vol 1434. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-3652-6_2

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  • DOI: https://doi.org/10.1007/978-1-4939-3652-6_2

  • Published:

  • Publisher Name: Humana Press, New York, NY

  • Print ISBN: 978-1-4939-3650-2

  • Online ISBN: 978-1-4939-3652-6

  • eBook Packages: Springer Protocols

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