On the Algorithmic Tractability of Single Nucleotide Polymorphism (SNP) Analysis and Related Problems (PDF)

Inhaltsangabe:Abstract:
This work brings together two areas of science¿biology and informatics¿that have only recently been connected in the emerging (and vastly growing) research field of Bioinformatics. In order to achieve a common basis for Parts 2 and 3 of this work, Part 1 intends to introduce the computer scientist to the relevant biological background and terminology (Chapter 2), and to familiarize the biologist with the relevant topics from theoretical computer science (Chapter 3).
Chapter 2 first introduces some terminology from the field of genetics, thereby defining SNPs. We then motivate the analysis of SNPs by two applications, i.e. the analysis of evolutionary development and the field of pharmacogenetics. Especially the field of pharmacogenetics is capable of having an enormous impact on medicine and the pharmaceutical industry in the near future by using SNP data to predict the efficacy of medication.
Chapter 3 gives a brief introduction to the field of computational complexity. We will see and motivate how algorithms are analyzed in theoretical computer science. This will lead to the definition of ¿complexity classes¿, introducing the class NP which includes computationally hard problems. Some of the hard problems in the class NP can be solved efficiently using the tool of fixed-parameter tractability, introduced at the end of this chapter.
An important application of SNP data is in the analysis of the evolutionary history of species development (phylogenetic analysis ¿ part two ¿ chapters 4 and 5). As will be made plausible in Chapter 5 using SNP data is¿in many ways¿superior to previous approaches of phylogenetic analysis. In order to analyze the development of species using SNP data, an underlying model of evolution must be specified. A popular model is the so-called perfect phylogeny, but the construction of this phylogeny is a computationally hard problem when there are inconsistencies (such as read-errors or an imperfect .t to the model of perfect phylogeny) in the underlying data.
Chapter 4 analyzes the problem of ¿forbidden submatrix removal¿ which is closely connected to constructing perfect phylogenies¿we will see in Chapter 5 that its computational complexity is directly related to that of constructing a perfect phylogeny from data which is partially erroneous. In this chapter, we analyze the algorithmic tractability of ¿forbidden submatrix removal¿, characterizing cases where this problem is NP-complete (being [...]