Home LiteratureArticle Details
PMID: 18989037 Published · ppublish English Journal Article

SpeedHap: an accurate heuristic for the single individual SNP haplotyping problem with many gaps, high reading error rate and low coverage.

IEEE/ACM transactions on computational biology and bioinformatics ·Vol. 5 ·No. 4 ·2008-00-00 ·Pages 492-502

Genovese LM, Geraci F, Pellegrini M

Abstract

Single nucleotide polymorphism (SNP) is the most frequent form of DNA variation. The set of SNP's 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. When gaps are considered no exact method of polynomial complexity is known. The problem is also hard to approximate with guarantees. Therefore fast heuristics have been proposed. In this paper we describe SpeedHap, 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 SpeedHap on real data from the HapMap Project.

MeSH Terms
Algorithms Base Sequence Chromosome Mapping/methods DNA Mutational Analysis/methods Haplotypes/genetics Humans Molecular Sequence Data Polymorphism, Single Nucleotide/genetics Reproducibility of Results Sensitivity and Specificity Sequence Analysis, DNA/methods Software
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Genovese Loredana M
Institute for Informatics and Telematics, Italian National Research Council, Via G. Moruzzi 1, 56124 Pisa, Italy. [email protected]
Geraci Filippo
Pellegrini Marco
Article Info
Journal
IEEE/ACM transactions on computational biology and bioinformatics
Abbr.
IEEE/ACM Trans Comput Biol Bioinform
ISSN
1557-9964
Published
2008-00-00
Pages
492-502
Language
English
Region
United States
NLM ID
101196755
Subset
IM
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: [email protected]