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Maximum parsimony xor haplotyping by sparse dictionary selection

机译:通过稀疏字典选择的最大简约异或单倍型

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Background Xor-genotype is a cost-effective alternative to the genotype sequence of an individual. Recent methods developed for haplotype inference have aimed at finding the solution based on xor-genotype data. Given the xor-genotypes of a group of unrelated individuals, it is possible to infer the haplotype pairs for each individual with the aid of a small number of regular genotypes. Results We propose a framework of maximum parsimony inference of haplotypes based on the search of a sparse dictionary, and we present a greedy method that can effectively infer the haplotype pairs given a set of xor-genotypes augmented by a small number of regular genotypes. We test the performance of the proposed approach on synthetic data sets with different number of individuals and SNPs, and compare the performances with the state-of-the-art xor-haplotyping methods PPXH and XOR-HAPLOGEN. Conclusions Experimental results show good inference qualities for the proposed method under all circumstances, especially on large data sets. Results on a real database, CFTR, also demonstrate significantly better performance. The proposed algorithm is also capable of finding accurate solutions with missing data and/or typing errors.
机译:背景Xor基因型是个体基因型序列的一种经济有效的替代选择。为单倍型推断开发的最新方法旨在基于异或基因型数据找到解决方案。给定一组无关个体的异或基因型,可以借助少量常规基因型推断每个个体的单倍型。结果我们基于稀疏字典的搜索提出了最大单倍型推断的框架,并且我们提出了一种贪婪方法,该方法可以有效地推断给定的一组xor基因型加上少量常规基因型的单倍型对。我们在不同数量的个人和SNP的合成数据集上测试了该方法的性能,并将其与最新的异或四联法PPXH和XOR-HAPLOGEN进行了比较。结论实验结果表明,在所有情况下,特别是在大数据集上,该方法均具有良好的推断质量。真实数据库CFTR上的结果也显示出明显更好的性能。所提出的算法还能够找到缺少数据和/或键入错误的准确解决方案。

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