Genome Sequencing and Analysis Methods in Chronic Lymphocytic Leukemia

  • Víctor QuesadaEmail author
  • Miguel Araujo-Voces
  • José G. Pérez-Silva
  • Gloria Velasco
  • Carlos López-OtínEmail author
Part of the Methods in Molecular Biology book series (MIMB, volume 1881)


The genomic sequencing of chronic lymphocytic leukemia (CLL) samples has provided exciting new venues for the understanding and treatment of this prevalent disease. This feat is possible thanks to high-throughput sequencing methods, such as Illumina sequencing. The interpretation of these data sources requires not only appropriate software and hardware, but also understanding the biology and technology behind the sequencing process. Here, we provide a primer to understand each step in the analysis of point mutations from whole-genome or whole-exome sequencing experiments of tumor and normal samples.

Key words

Bioinformatics Genomics Cancer Next-generation sequencing Leukemia 



We thank J.M.P. Freije and X.S. Puente for helpful comments and advice. The Instituto Universitario de Oncología is supported by Fundación Bancaria Caja de Ahorros de Asturias. V.Q. is supported by Ministerio de Economía y Competitividad and Gobierno del Principado de Asturias, including FEDER funding. C.L.-O. is supported by grants from European Research Council (DeAge, ERC Advanced Grant), Ministerio de Economía y Competitividad, Instituto de Salud Carlos III (RTICC) and Progeria Research Foundation.


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Víctor Quesada
    • 1
    • 2
    Email author
  • Miguel Araujo-Voces
    • 1
  • José G. Pérez-Silva
    • 1
  • Gloria Velasco
    • 1
    • 2
  • Carlos López-Otín
    • 1
    • 2
    Email author
  1. 1.Departamento de Bioquímica y Biología Molecular, Facultad de MedicinaInstituto Universitario de Oncología (IUOPA), Universidad de OviedoOviedoSpain
  2. 2.Centro de Investigación Biomédica en Red de CáncerMadridSpain

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