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Strobe sequence design for haplotype assembly

机译:单倍型组件的频闪序列设计

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Background: Humans are diploid, carrying two copies of each chromosome, one from each parent. Separating the paternal and maternal chromosomes is an important component of genetic analyses such as determining genetic association, inferring evolutionary scenarios, computing recombination rates, and detecting c/s-regulatory events. As the pair of chromosomes are mostly identical to each other, linking together of alleles at heterozygous sites is sufficient to phase, or separate the two chromosomes. InHaplotype Assembly, the linking is done by sequenced fragments that overlap two heterozygous sites. While there has been a lot of research on correcting errors to achieve accurate haplotypes via assembly, relatively little work has been done on designingsequencing experiments to get long haplotypes. Here, we describe the different design parameters that can be adjusted with next generation and upcoming sequencing technologies, and study the impact of design choice on the length of the haplotype. Result
机译:背景:人类是二倍体,携带每条染色体的两份副本,每个父母一个。分离父母和母体染色体是遗传分析的重要组成部分,例如确定遗传结合,推断进化场景,计算重组率和检测C / S-SCOUNT事件的重要组成部分。由于一对染色体彼此大多相同,因此杂合位点的等位基因在一起相相,或分离两种染色体。 Inhaplotype组装,链接通过与两个杂合位点重叠的测序片段进行。虽然有很多关于通过组装实现准确的单倍型的纠正错误的研究,但在设计序列实验中已经完成了相对较少的工作以获得长期单位。在这里,我们描述了可以用下一代和即将到来的测序技术调整的不同设计参数,并研究设计选择对单倍型长度的影响。结果

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