A fast and accurate enumeration-based algorithm for haplotyping a triploid individual

Abstract

Abstract Background Haplotype assembly, reconstructing haplotypes from sequence data, is one of the major computational problems in bioinformatics. Most of the current methodologies for haplotype assembly are designed for diploid individuals. In recent years, genomes having more than two sets of homologous chromosomes have attracted many research groups that are interested in the genomics of disease, phylogenetics, botany and evolution. However, there is still a lack of methods for reconstructing polyploid haplotypes. Results In this work, the minimum error correction with genotype information (MEC/GI) model, an important combinatorial model for haplotyping a single individual, is used to study the triploid individual haplotype reconstruction problem. A fast and accurate enumeration-based algorithm enumeration haplotyping triploid with least difference (EHTLD) is proposed for solving the MEC/GI model. The EHTLD algorithm tries to reconstruct the three haplotypes according to the order of single nucleotide polymorphism (SNP) loci along them. When reconstructing a given SNP site, the EHTLD algorithm enumerates three kinds of SNP values in terms of the corresponding site’s genotype value, and chooses the one, which leads to the minimum difference between the reconstructed haplotypes and the sequenced fragments covering that SNP site, to fill the SNP loci being reconstructed. Conclusion Extensive experimental comparisons were performed between the EHTLD algorithm and the well known HapCompass and HapTree. Compared with algorithms HapCompass and HapTree, the EHTLD algorithm can reconstruct more accurate haplotypes, which were proven by a number of experiments.

Keywords

• Bioinformatics
• Sequence analysis
• Single nucleotide polymorphism (SNP)
• Triploid
• Haplotype
• Minimum error correction with genotype information (MEC/GI)