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Penalized estimation of haplotype frequencies.

机译:单倍型频率的惩罚估计。

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摘要

Low haplotype diversity and linkage disequilibrium are the rule in short genomic segments. This fact suggests that parsimony should be enforced in estimation of haplotype frequencies. The current article introduces a diversity penalty that automatically discards potential haplotypes with low explanatory power. The standard EM algorithm for haplotype frequency estimation can accommodate the penalty if one passes over to a more general minorize-maximize (MM) scheme for estimation. RESULTS: Our new MM algorithm converges in fewer iterations, eliminates marginal haplotypes from further consideration and reduces the computational complexity of each iteration. Estimation by the MM algorithm also improves haplotyping and genotype imputation compared to naive application of the EM algorithm. Thus, the MM algorithm is a useful substitute for the EM algorithm. Compared to the most sophisticated current methods of haplotyping and genotype imputation, the MM algorithm is slightly less accurate but at least an order of magnitude faster. AVAILABILITY: Our software will be made available in the next release the program Mendel at http://www.genetics.ucla.edu/software/.
机译:低单倍型多样性和连锁不平衡是短基因组片段中的规则。这一事实表明,在估计单倍型频率时应加强简约性。当前文章介绍了一种多样性惩罚,该惩罚会自动丢弃具有较低解释力的潜在单倍型。如果将单模频率估计的标准EM算法转移到更通用的最小化最大化(MM)方案进行估计,则可以适应这种代价。结果:我们的新MM算法收敛次数更少,消除了边际单元型的进一步考虑,并降低了每次迭代的计算复杂度。与天真的应用EM算法相比,MM算法的估计还改善了单元型和基因型估算。因此,MM算法是EM算法的有用替代。与当前最复杂的单元型和基因型估算方法相比,MM算法的准确度略低,但至少快了一个数量级。可用性:我们的软件将在下一个版本的程序Mendel中提供,网址为http://www.genetics.ucla.edu/software/。

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