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首页> 外文期刊>Journal of Bioinformatics and Computational Biology >A SURVEY ON HAPLOTYPING ALGORITHMS FOR TIGHTLY LINKED MARKERS
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A SURVEY ON HAPLOTYPING ALGORITHMS FOR TIGHTLY LINKED MARKERS

机译:紧密关联标记的遗传算法调查

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Two grand challenges in the postgenomic era are to develop a detailed understanding of heritable variation in the human genome, and to develop robust strategies for identifying the genetic contribution to diseases and drug responses. Haplotypes of single nucleotide polymorphisms (SNPs) have been suggested as an effective representation of human variation, and various haplotype-based association mapping methods for complex traits have been proposed in the literature. However, humans are diploid and, in practice, genotype data instead of haplotype data are collected directly. Therefore, efficient and accurate computational methods for haplotype reconstruction are needed and have recently been investigated intensively, especially for tightly linked markers such as SNPs. This paper reviews statistical and combinatorial haplotyping algorithms using pedigree data, unrelated individuals, or pooled samples.
机译:后基因组时代的两个重大挑战是对人类基因组中遗传变异的详细了解,以及制定可靠的策略来鉴定对疾病和药物反应的遗传贡献。已经提出单核苷酸多态性(SNP)的单倍型作为人类变异的有效代表,并且在文献中已经提出了多种基于单倍型的复杂性状的关联作图方法。但是,人类是二倍体,实际上是直接收集基因型数据而不是单倍型数据。因此,需要有效且准确的单倍型重建计算方法,并且最近对其进行了深入研究,尤其是对于紧密连接的标记(如SNP)。本文回顾了使用系谱数据,无关个体或样本集合的统计和组合单倍型算法。

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