单体型装配问题的研究现状

Research situation of Haplotype Assembly Problem

单核苷酸多态性(SNP)是指不同个体DNA序列上的单个碱基的差异,是人类基因组中最丰富的遗传变异。单体型是指位于一条染色体上或某一区域的一组相关联的SNP等位基因。研究表明在复杂性疾病研究方面,由多个变异位点组合构成的单体型所携带的信息比单个的SNP数据的信息更有价值,由此衍生了单体型装配问题。文章论述了SNP,单体型,基因型的定义,综述了求解单一个体单体型装配问题的主要模型及算法,同时阐述了求解群体单体型装配问题的5种方法及算法。

Single nucleotide polymorphism （SNP）-- a single base difference varying from DNA sequences of different individuals, is the most common type of genetic variant in human genome. Haplotype is a set of associated SNP alleles observed on a single chromosome or a part of a chromosome. Some studies demonstrated that the analyses of haplotype defined by the grouping and interaction of several variants rather than any individual SNP correlate with complex phenotypes form to address genetic differences and bring haplotype assembly problem. Here, we describe the definitions of SNP, haplotype and genotype, summarize several models and algorithms of single individual haplotype assembly problem, as well as five methods and algorithms of group haplotypes assembly problem in the paper.