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GAMBIT(细菌鉴定和追踪的基因组逼近方法):一种利用细菌分离物的全基因组测序快速进行临床鉴定的方法。

GAMBIT (Genomic Approximation Method for Bacterial Identification and Tracking): A methodology to rapidly leverage whole genome sequencing of bacterial isolates for clinical identification.

机构信息

Independent Researcher, Meriden, Connecticut, United States of America.

Nevada State Public Health Laboratory, Reno, NV, United States of America.

出版信息

PLoS One. 2023 Feb 16;18(2):e0277575. doi: 10.1371/journal.pone.0277575. eCollection 2023.

Abstract

Whole genome sequencing (WGS) of clinical bacterial isolates has the potential to transform the fields of diagnostics and public health. To realize this potential, bioinformatic software that reports identification results needs to be developed that meets the quality standards of a diagnostic test. We developed GAMBIT (Genomic Approximation Method for Bacterial Identification and Tracking) using k-mer based strategies for identification of bacteria based on WGS reads. GAMBIT incorporates this algorithm with a highly curated searchable database of 48,224 genomes. Herein, we describe validation of the scoring methodology, parameter robustness, establishment of confidence thresholds and the curation of the reference database. We assessed GAMBIT by way of validation studies when it was deployed as a laboratory-developed test in two public health laboratories. This method greatly reduces or eliminates false identifications which are often detrimental in a clinical setting.

摘要

对临床分离细菌进行全基因组测序(WGS)有可能改变诊断学和公共卫生领域。为了实现这一潜力,需要开发出符合诊断测试质量标准的报告鉴定结果的生物信息学软件。我们使用基于 k-mer 的策略开发了 GAMBIT(用于细菌鉴定和跟踪的基因组近似方法),该策略基于 WGS 读数来鉴定细菌。GAMBIT 将该算法与一个经过高度编辑的可搜索数据库(包含 48224 个基因组)相结合。在此,我们描述了评分方法、参数稳健性、置信度阈值的建立以及参考数据库的编辑。我们通过在两个公共卫生实验室中作为实验室开发的测试部署时的验证研究来评估 GAMBIT。这种方法大大减少或消除了经常在临床环境中造成危害的假鉴定。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c374/9934365/0fe66af346dc/pone.0277575.g001.jpg

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