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Computational Pipeline for Next-Generation Sequencing (NGS) Studies in Genetics of NASH

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Non-Alcoholic Steatohepatitis

Part of the book series: Methods in Molecular Biology ((MIMB,volume 2455))

Abstract

High-throughput sequencing (HTS) technologies have contributed to expand current knowledge of the biology of complex diseases, including nonalcoholic fatty liver disease (NAFLD). Genome-wide association studies, whole exome sequencing, and sequencing of entire genes are used to identify variants and/or mutations that predispose to the disease pathogenesis. Here, we present a tutorial that may guide readers to manage high volume of genetics data in the context of Next-Generation Sequencing (NGS) studies.

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Acknowledgments

This study was partially supported by Grants PICT 2018-0620, PICT 2018-0889, and PICT 2016-0135 (Agencia Nacional de Promoción Científica y Tecnológica, FONCyT), Proyectos Unidades Ejecutoras 2017, PUE 0055(CONICET).

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Author notes

  1. Silvia Sookoian and Carlos J. Pirola are joint senior authors.

Authors and Affiliations

  1. School of Medicine, Institute of Medical Research A Lanari, University of Buenos Aires, Ciudad Autónoma de Buenos Aires, Argentina

    Adrian Salatino, Silvia Sookoian & Carlos J. Pirola

  2. Department of Molecular Genetics and Biology of Complex Diseases, Institute of Medical Research (IDIM), National Scientific and Technical Research Council (CONICET)—University of Buenos Aires, Ciudad Autónoma de Buenos Aires, Argentina

    Adrian Salatino & Carlos J. Pirola

  3. Department of Clinical and Molecular Hepatology, Institute of Medical Research (IDIM), National Scientific and Technical Research Council (CONICET)—University of Buenos Aires, Ciudad Autónoma de Buenos Aires, Argentina

    Silvia Sookoian

Authors
  1. Adrian Salatino
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  2. Silvia Sookoian
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  3. Carlos J. Pirola
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Corresponding authors

Correspondence to Silvia Sookoian or Carlos J. Pirola .

Editor information

Editors and Affiliations

  1. Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, VA, USA

    Devanand Sarkar

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© 2022 The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature

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Salatino, A., Sookoian, S., Pirola, C.J. (2022). Computational Pipeline for Next-Generation Sequencing (NGS) Studies in Genetics of NASH. In: Sarkar, D. (eds) Non-Alcoholic Steatohepatitis. Methods in Molecular Biology, vol 2455. Humana, New York, NY. https://doi.org/10.1007/978-1-0716-2128-8_16

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  • DOI: https://doi.org/10.1007/978-1-0716-2128-8_16

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  • Publisher Name: Humana, New York, NY

  • Print ISBN: 978-1-0716-2127-1

  • Online ISBN: 978-1-0716-2128-8

  • eBook Packages: Springer Protocols

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