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A Fast and Accurate Heuristic for the Single Individual SNP Haplotyping Problem with Many Gaps, High Reading Error Rate and Low Coverage

Single nucleotide polymorphism (SNP) is the most frequent form of DNA variation. 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, including diagnostic and medical therapy. In this paper we propose a new heuristic method for the problem of haplotype reconstruction for (portions of ) a pair of homologous human chromosomes from a single individual (SIH). The problem is well known in literature and exact algorithms have been proposed for the case when no (or few) gaps are allowed in the input fragments. These algorithms, though exact and of polynomial complexity, are slow in practice. Therefore fast heuristics have been proposed. In this paper we describe a new heuristic method that is able to tackle the case of many gapped fragments and retains its effectiveness even when the input fragments have high rate of reading errors (up to 20%) and low coverage (as low as 3). We test our method on real data from the HapMap Project.

Workshop on Algorithms in Bioinformatics (WABI'07), Philadelphia, USA,, 2007

Autori: L. M. Genovese, F. Geraci, M. Pellegrini
Autori IIT:

Loredana Marialuisa Genovese

Foto di Loredana Marialuisa Genovese

Tipo: Articolo in Atti di convegno internazionale con referee
Area di disciplina: Computer Science & Engineering
Proceeding of 7th Workshop on Algorithms in Bioinformatics (WABI'07), Philadelphia, USA, September 2007 Da pagina 49 a pagina 60

Attività: Biologia computazionale