Next-generation sequencing approaches to short-tandem repeat sequence variation

短串联重复序列变异的下一代测序方法

• 批准号: 1698175
• 金额: --
• 依托单位: University of Leicester
• 依托单位国家: 英国
• 项目类别: Studentship
• 财政年份: 2015
• 资助国家: 英国
• 起止时间: 2015 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=studentship-1698175
• 关键词: Next; generation; sequencing; approaches; short

Human short tandem repeats (STRs) have been widely used as markers in linkage and population-genetic studies, and remain the prime tools for forensic individual identification. However, remarkably little is known about STR sequence variation in human populations; this is due to genotyping via PCR fragment length, which ignores internal variants and STR-allele linkage to flanking variation, thus hiding alleles identical-by-descent (IBD) under apparent identity-by-state. The past decade has seen the emergence of next-generation sequencing (NGS), which can provide simultaneous sequence data for multiple PCR amplicons. This promises access to STR sequences and flanking variants, and thanks to its high throughput and suitability for fragmented DNA, is being developed for new forensic assays. Note that low-coverage whole-genome approaches yield only STR length information.

人类短串联重复序列（STR）已被广泛用作连锁和群体遗传学研究的标记，并仍然是法医学个体识别的主要工具。然而，对人类群体中STR序列变异知之甚少;这是由于通过PCR片段长度进行基因分型，其忽略了内部变异和STR等位基因与侧翼变异的连锁，从而将等位基因血统相同（IBD）隐藏在明显的身份状态下。在过去的十年中，出现了下一代测序（NGS），它可以提供多个PCR扩增子的同时序列数据。这有望获得STR序列和侧翼变体，并且由于其高通量和片段化DNA的适用性，正在开发用于新的法医分析。注意，低覆盖率的全基因组方法仅产生STR长度信息。