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法医学中高通量测序技术的应用进展:专业用户欧洲范围内调查结果。

Progress in the implementation of massively parallel sequencing for forensic genetics: results of a European-wide survey among professional users.

机构信息

Institute of Legal Medicine, Faculty of Medicine and University Clinic, University of Cologne, Melatengürtel 60/62, 50823, Cologne, Germany.

Hessisches Landeskriminalamt, Wiesbaden, Germany.

出版信息

Int J Legal Med. 2021 Jul;135(4):1425-1432. doi: 10.1007/s00414-021-02569-0. Epub 2021 Apr 13.

Abstract

A European-wide online survey was conducted to generate an overview on the state-of-the-art using massively parallel sequencing (MPS) platforms for forensic DNA analysis and DNA phenotyping among forensic practitioners in Europe. The survey was part of the dissemination activities of the "VISible Attributes through GEnomics - VISAGE" Horizon 2020 funded European research project [30], in preparation of a series of educational training activities. A total of 105 replies from 32 European countries representing participants from police, governmental, academic, and private laboratories providing professional services in the field of forensic genetics were included in the final analysis. Of these, 73% already own an MPS platform or are planning to acquire one within the next 1-2 years. One-third of the participants have already carried out MPS-based STR sequencing, identity, or ancestry SNP typing. A total of 23-40% of participants are planning to explore all FDP applications showing the overall very high interest in using MPS for the whole range of forensic MPS markers and applications. About 50% of the participants have previously gathered experience using forensic DNA phenotyping (FDP) markers based on conventional (i.e., not MPS-based) DNA typing methods. A total of 55% of the participants have attended training on the general use of MPS technology, but 36% have received no training whatsoever. Accordingly, 90% have expressed high or medium interest to attend training on the analysis and interpretation of DNA phenotyping data for predicting appearance, ancestry, and age. The results of our survey will provide valuable information for organizing relevant training workshops on all aspects of MPS-based DNA phenotyping for the forensic genetics scientific community.

摘要

一项针对欧洲法医从业者的大规模平行测序(MPS)平台在法医 DNA 分析和 DNA 表型检测方面应用现状的欧洲范围内在线调查已经完成。该调查是“通过基因组学显现可见特征 - VISAGE”地平线 2020 资助的欧洲研究项目[30]传播活动的一部分,旨在为一系列教育培训活动做准备。最终分析共纳入了来自 32 个欧洲国家的 105 名回复,这些回复代表了来自警察、政府、学术和私营实验室的参与者,他们在法医遗传学领域提供专业服务。其中,73%的人已经拥有或计划在未来 1-2 年内购买 MPS 平台。三分之一的参与者已经进行了基于 MPS 的 STR 测序、身份或血统 SNP 分型。共有 23-40%的参与者计划探索所有 FDP 应用,这表明他们对使用 MPS 进行法医 MPS 标记和应用的整个范围非常感兴趣。约 50%的参与者之前曾使用基于常规(即非 MPS 方法)DNA 分型的法医 DNA 表型(FDP)标记积累了经验。共有 55%的参与者参加了关于 MPS 技术一般用途的培训,但 36%的人没有接受过任何培训。因此,90%的人对参加有关分析和解释用于预测外貌、血统和年龄的 DNA 表型数据的培训表现出高度或中度兴趣。我们的调查结果将为组织与法医遗传学科学界基于 MPS 的 DNA 表型分析的所有方面相关的培训研讨会提供有价值的信息。

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