Current state-of-art of STR sequencing in forensic genetics

被引：66

作者：

Alonso, Antonio ^{[1
]}

Barrio, Pedro Alberto ^{[1
]}

Mueller, Petra ^{[2
]}

Koecher, Steffi ^{[4
]}

Berger, Burkhard ^{[2
]}

Martin, Pablo ^{[1
]}

Bodner, Martin ^{[2
]}

Willuweit, Sascha ^{[4
]}

Parson, Walther ^{[2
,3
]}

Roewer, Lutz ^{[4
]}

Budowle, Bruce ^{[5
]}

机构：

[1] Natl Inst Toxicol & Forens Sci, Dept Biol, Jose Echegaray 4, Madrid 28232, Spain

[2] Med Univ Innsbruck, Inst Legal Med, Innsbruck, Austria

[3] Penn State Univ, Forens Sci Program, University Pk, PA 16802 USA

[4] Charite Univ Med Berlin, Inst Legal Med & Forens Sci, Berlin, Germany

[5] Univ North Texas, Hlth Sci Ctr, Ctr Human Identificat, Ft Worth, TX USA

来源：

ELECTROPHORESIS | 2018年 / 39卷 / 21期

关键词：

Capillary electrophoresis; Forensic genetics; Massively parallel sequencing; Short tandem repeats; Validation studies; SIGNATURE PREP KIT; INTERNATIONAL SOCIETY; GENOMICS SYSTEM; DNA COMMISSION; IDENTIFICATION; DATABASE; PANEL; LOCI; SNPS; TOOL;

D O I：

10.1002/elps.201800030

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

The current state of validation and implementation strategies of massively parallel sequencing (MPS) technology for the analysis of STR markers for forensic genetics use is described, covering the topics of the current catalog of commercial MPS-STR panels, leading MPS-platforms, and MPS-STR data analysis tools. In addition, the developmental and internal validation studies carried out to date to evaluate reliability, sensitivity, mixture analysis, concordance, and the ability to analyze challenged samples are summarized. The results of various MPS-STR population studies that showed a large number of new STR sequence variants that increase the power of discrimination in several forensically relevant loci are also presented. Finally, various initiatives developed by several international projects and standardization (or guidelines) groups to facilitate application of MPS technology for STR marker analyses are discussed in regard to promoting a standard STR sequence nomenclature, performing population studies to detect sequence variants, and developing a universal system to translate sequence variants into a simple STR nomenclature (numbers and letters) compatible with national STR databases.

引用

页码：2655 / 2668

页数：14

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