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

机译:一种快速准确的基于枚举的三倍体个体单倍型算法

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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. 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. 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.
机译:从序列数据重建单元型的单元型装配是生物信息学中的主要计算问题之一。当前用于单倍型组装的大多数方法都是为二倍体个体设计的。近年来,具有多于两组同源染色体的基因组吸引了许多对疾病的基因组学,系统发育,植物学和进化感兴趣的研究小组。然而,仍然缺乏重建多倍体单倍型的方法。在这项工作中,使用基因型信息的最小误差校正(MEC / GI)模型(一种用于单人单体定型的重要组合模型),用于研究三倍体个体单体型重构问题。针对MEC / GI模型,提出了一种基于快速准确的基于枚举的最小差异三倍体枚举单倍型算法。 EHTLD算法尝试根据沿其的单核苷酸多态性(SNP)基因座的顺序重建这三个单倍型。在重建给定的SNP位点时,EHTLD算法根据相应位点的基因型值枚举三种SNP值,然后选择一种,从而使重构的单倍型与覆盖该SNP位点的测序片段之间的差异最小。填充正在重建的SNP位点。在EHTLD算法与众所周知的HapCompass和HapTree之间进行了广泛的实验比较。与HapCompass和HapTree算法相比,EHTLD算法可以重建更准确的单倍型,这一点已通过大量实验证明。

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