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

  • F. Geraci
  • M. Pellegrini
Part of the Communications in Computer and Information Science book series (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).

Keywords

Baseline Algorithm Reconstruction Rate Bioinformatics Community Single Nucleotide Polymorphism Position Haplotype Assembly 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Berlin Heidelberg 2011

Authors and Affiliations

  • F. Geraci
    • 1
  • M. Pellegrini
    • 1
  1. 1.Istituto di Informatica e TelematicaCNR – Consiglio Nazionale delle RicerchePisaItaly

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