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首页> 外文会议>IEEE International Symposium on Technologies for Homeland Security >Human CODIS STR loci profiling from HTS data
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Human CODIS STR loci profiling from HTS data

机译：从HTS数据进行人CODIS STR基因座分析

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摘要

Human DNA identification is currently performed by amplifying a small, defined set of short tandem repeat (STR) loci (e.g. CODIS) and analyzing the size of the alleles present at those loci by capillary electrophoresis. High-throughput DNA sequencing (HTS) could enable the simultaneous analysis of many additional STR and single nucleotide polymorphism (SNP) loci, improving accuracy and discrimination. However, it is necessary to demonstrate that HTS can generate accurate data on the CODIS loci to enable backwards compatibility with the FBI NDIS database. Sequencing can also detect novel polymorphisms within alleles that migrate with identical sizes by capillary electrophoresis, improving allele discrimination, and enhancing human identification analysis. All CODIS alleles from an individual can be amplified in a single, multiplex PCR reaction, and combined with additional barcoded samples prior to sequencing. A computational tool for allele identification from multiplexed sequence data has been developed. With longer-read-length platforms, 99.6% allele calling accuracy can be achieved. In the course of STR sequencing protocol development, 12 novel allele sequences have been identified for multiple loci. Sequencing STR loci combined with SNPs will enable new forensic applications.
机译：目前，人类DNA鉴定是通过扩增一小部分定义的短串联重复（STR）基因座（例如CODIS），并通过毛细管电泳分析这些基因座上等位基因的大小来进行的。高通量DNA测序（HTS）可以同时分析许多其他STR和单核苷酸多态性（SNP）位点，从而提高准确性和区分度。但是，有必要证明HTS可以在CODIS基因座上生成准确的数据，以实现与FBI NDIS数据库的向后兼容性。测序还可以检测等位基因内新的多态性，这些新的多态性通过毛细管电泳以相同的大小迁移，从而改善了等位基因的分辨力并增强了人类识别分析。可以在单个多重PCR反应中扩增来自个体的所有CODIS等位基因，并在测序前将其与其他带条形码的样品合并。已经开发了一种用于从多路复用序列数据中识别等位基因的计算工具。使用较长阅读平台，可以实现99.6％的等位基因检出准确率。在STR测序协议开发过程中，已为多个基因座鉴定了12个新的等位基因序列。结合SNP的STR基因座测序将使新的法医学应用成为可能。

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