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下一代测序技术:在法医学中的应用?

Next generation sequencing: an application in forensic sciences?

作者信息

Alvarez-Cubero Maria Jesus, Saiz Maria, Martínez-García Belén, Sayalero Sara M, Entrala Carmen, Lorente Jose Antonio, Martinez-Gonzalez Luis Javier

机构信息

a GENYO , Centro Pfizer-Universidad de Granada-Junta de Andalucía de Genómica e Investigación Oncológica, Parque Tecnológico de Ciencias de la Salud (PTS) , Granada , España.

b Laboratorio de Identificación Genética, Departamento de Medicina Legal, Toxicología y Antropología Física, Facultad de Medicina , Universidad de Granada , Granada , España.

出版信息

Ann Hum Biol. 2017 Nov;44(7):581-592. doi: 10.1080/03014460.2017.1375155. Epub 2017 Sep 26.

Abstract

CONTEXT

Over the last few decades, advances in sequencing have improved greatly. One of the most important achievements of Next Generation Sequencing (NGS) is to produce millions of sequence reads in a short period of time, and to produce large sequences of DNA in fragments of any size. Libraries can be generated from whole genomes or any DNA or RNA region of interest without the need to know its sequence beforehand. This allows for looking for variations and facilitating genetic identification.

OBJECTIVES

A deep analysis of current NGS technologies and their application, especially in forensics, including a discussion about the pros and cons of these technologies in genetic identification.

METHODS

A systematic literature search in PubMed, Science Direct and Scopus electronic databases was performed for the period of December 2012 to June 2015.

RESULTS

In the forensic field, one of the main problems is the limited amount of sample available, as well as its degraded state. If the amount of DNA input required for preparing NGS libraries continues to decrease, nearly any sample could be sequenced; therefore, the maximum information from any biological remains could be obtained. Additionally, microbiome typification could be an interesting application to study for crime scene characterisation.

CONCLUSIONS

NGS technologies are going to be crucial for DNA human typing in cases like mass disasters or other events where forensic specimens and samples are compromised and degraded. With the use of NGS it will be possible to achieve the simultaneous analysis of the standard autosomal DNA (STRs and SNPs), mitochondrial DNA, and X and Y chromosomal markers.

摘要

背景

在过去几十年中,测序技术有了很大进步。下一代测序(NGS)最重要的成就之一是在短时间内产生数百万条序列读数,并产生任意大小片段的大DNA序列。文库可以从全基因组或任何感兴趣的DNA或RNA区域生成,而无需事先知道其序列。这有助于寻找变异并促进基因鉴定。

目的

深入分析当前的NGS技术及其应用,特别是在法医学中的应用,包括讨论这些技术在基因鉴定中的优缺点。

方法

在2012年12月至2015年6月期间,对PubMed、Science Direct和Scopus电子数据库进行了系统的文献检索。

结果

在法医领域,主要问题之一是可用样本量有限及其降解状态。如果制备NGS文库所需的DNA输入量继续减少,几乎任何样本都可以进行测序;因此,可以从任何生物遗骸中获得最大信息。此外,微生物群落分型可能是研究犯罪现场特征的一个有趣应用。

结论

在大规模灾难或其他法医标本和样本受损及降解的事件中,NGS技术对于人类DNA分型至关重要。使用NGS将有可能同时分析标准常染色体DNA(STR和SNP)、线粒体DNA以及X和Y染色体标记。

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