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开源和商业软件选项在法医测序数据分析中的应用概述

An Introductory Overview of Open-Source and Commercial Software Options for the Analysis of Forensic Sequencing Data.

机构信息

National Institute of Standards and Technology (NIST), Gaithersburg, MD 20899, USA.

出版信息

Genes (Basel). 2021 Oct 29;12(11):1739. doi: 10.3390/genes12111739.

Abstract

The top challenges of adopting new methods to forensic DNA analysis in routine laboratories are often the capital investment and the expertise required to implement and validate such methods locally. In the case of next-generation sequencing, in the last decade, several specifically forensic commercial options became available, offering reliable and validated solutions. Despite this, the readily available expertise to analyze, interpret and understand such data is still perceived to be lagging behind. This review gives an introductory overview for the forensic scientists who are at the beginning of their journey with implementing next-generation sequencing locally and because most in the field do not have a bioinformatics background may find it difficult to navigate the new terms and analysis options available. The currently available open-source and commercial software for forensic sequencing data analysis are summarized here to provide an accessible starting point for those fairly new to the forensic application of massively parallel sequencing.

摘要

在常规实验室中采用新方法进行法医 DNA 分析的最大挑战通常是资本投资以及在本地实施和验证此类方法所需的专业知识。在下一代测序的情况下,在过去十年中,出现了几种专门的法医商业选择,提供了可靠和经过验证的解决方案。尽管如此,人们仍然认为,能够分析、解释和理解此类数据的现成专业知识仍然滞后。本文综述面向刚开始在本地实施下一代测序的法医科学家,因为该领域的大多数人都没有生物信息学背景,可能难以驾驭现有的新术语和分析选项。这里总结了当前可用于法医测序数据分析的开源和商业软件,为那些刚刚开始大规模并行测序法医应用的人提供了一个易于访问的起点。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3c0c/8618049/117822685da2/genes-12-01739-g001.jpg

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