Issue No. 02 - April-June (2008 vol. 5)
ISSN: 1545-5963
pp: 245-251
ABSTRACT
We consider a combinatorial problem derived from haplotyping a population with respect to a genetic disease, either recessive or dominant. Given a set of individuals, partitioned into healthy and diseased, and the corresponding sets of genotypes, we want to infer bad'' and good'' haplotypes to account for these genotypes and for the disease. Assume e.g. the disease is recessive. Then, the resolving haplotypes must consist of \emph{bad} and \emph{good} haplotypes, so that (i) each genotype belonging to a diseased individual is explained by a pair of bad haplotypes and (ii) each genotype belonging to a healthy individual is explained by a pair of haplotypes of which at least one is good. We prove that the associated decision problem is NP-complete. However, we also prove that there is a simple solution, provided the data satisfy a very weak requirement.
INDEX TERMS
Combinatorics, Discrete Mathematics, Biology and genetics
CITATION
Romeo Rizzi, Giuseppe Lancia, R. Ravi, "Haplotyping for Disease Association: A Combinatorial Approach", IEEE/ACM Transactions on Computational Biology and Bioinformatics, vol. 5, no. , pp. 245-251, April-June 2008, doi:10.1109/TCBB.2007.70255