title: Haplotyping for disease association: a combinatorial approach.
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 bad and 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.
authors.affiliation: Dipartimento di Matematica e Informatica, University of Udine, Udine, Italy. lancia@dimi.uniud.it
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Lancia
authors.forename: R
authors.initials: R
authors.lastname: Ravi
authors.forename: Romeo
authors.initials: R
authors.lastname: Rizzi
mesh_terms: D019295:Computational Biology; D005260:Female; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008297:Male; D008433:Mathematics; D008957:Models, Genetic; D020641:Polymorphism, Single Nucleotide