Journal of Computer Science and Technology

, Volume 18, Issue 6, pp 675–688

The Haplotyping problem: An overview of computational models and solutions


    • DISCoUniversity of Milano-Bicocca
  • Gianluca Della Vedova
    • Dip. StatisticaUniversity of Milano-Bicocca
  • Riccardo Dondi
    • DISCoUniversity of Milano-Bicocca
  • Jing Li
    • Department of Computer ScienceUniversity of California at Riverside

DOI: 10.1007/BF02945456

Cite this article as:
Bonizzoni, P., Della Vedova, G., Dondi, R. et al. J. Comput. Sci. & Technol. (2003) 18: 675. doi:10.1007/BF02945456


The investigation of genetic differences among humans has given evidence that mutations in DNA sequences are responsible for some genetic diseases. The most common mutation is the one that involves only a single nucleotide of the DNA sequence, which is called a single nucleotide polymorphism (SNP). As a consequence, computing a complete map of all SNPs occurring in the human populations is one of the primary goals of recent studies in human genomics. The construction of such a map requires to determine the DNA sequences that from all chromosomes. In diploid organisms like humans, each chromosome consists of two sequences calledhaplotypes. Distinguishing the information contained in both haplotypes when analyzing chromosome sequences poses several new computational issues which collectively form a new emerging topic of Computational Biology known asHaplotyping.

This paper is a comprehensive study of some new combinatorial approaches proposed in this research area and it mainly focuses on the formulations and algorithmic solutions of some basic biological problems. Three statistical approaches are briefly discussed at the end of the paper.


bioinformaticscombinatorial algorithmshaplotypes

Copyright information

© Science Press, Beijing China and Allerton Press Inc. 2003