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International Joint Conference on Biomedical Engineering Systems and Technologies

BIOSTEC 2010: Biomedical Engineering Systems and Technologies pp 322–333Cite as

ReHap: A Framework for Single Individual Haplotyping from Next-Generation Sequencing Data

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Part of the book series: Communications in Computer and Information Science ((CCIS,volume 127))

Abstract

Next-Generation Sequencing technologies (NGS) are trasforming today’s biology by making it economically feasible to read the complete genome of individuals. Single nucleotide polymorphism (SNP) is the most common form of individual DNA variation; and the set of SNPs present in a chromosome (called the haplotype) is of interest in a wide area of applications in molecular biology and biomedicine. Personalized haplotyping of (portions of/all) the chromosomes of individuals through NGS is one of themost promising basic ingredients leading to effective personalized medicine (including diagnosis, and eventually therapy).

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Author information

Authors and Affiliations

  1. Istituto di Informatica e Telematica, CNR – Consiglio Nazionale delle Ricerche, 56100, Pisa, Italy

    F. Geraci & M. Pellegrini

Authors
  1. F. Geraci
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  2. M. Pellegrini
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Editor information

Editors and Affiliations

  1. IST - Technical University of Lisbon, Av.Rovisco Pais, 1, 1049-001, Lisbon, Portugal

    Ana Fred

  2. Departament of Systems and Informatics, Polytechnic Institute of Setúbal – INSTICC, Rua do Vale de Chaves - Estefanilha, 2910-761, Setúbal, Portugal

    Joaquim Filipe

  3. Institute of Telecommunications, Av. Rovisco Pais, 1, 1049-001, Lisboa, Portugal

    Hugo Gamboa

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Geraci, F., Pellegrini, M. (2011). ReHap: A Framework for Single Individual Haplotyping from Next-Generation Sequencing Data. In: Fred, A., Filipe, J., Gamboa, H. (eds) Biomedical Engineering Systems and Technologies. BIOSTEC 2010. Communications in Computer and Information Science, vol 127. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-18472-7_25

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  • DOI: https://doi.org/10.1007/978-3-642-18472-7_25

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-18471-0

  • Online ISBN: 978-3-642-18472-7

  • eBook Packages: Computer ScienceComputer Science (R0)

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