在凭证我们(希望)信任:揭示隐藏的错误在基因库的四足动物分类基础。

IF 4.5 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY
Albert Carné, David R Vieites, Matthijs P van den Burg
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引用次数: 0

摘要

基因库是各种生物学科基础的宝贵资源。虽然它们的数据和元数据的可靠性对于强有力的研究成果至关重要,但许多研究都强调了数据质量和一致性问题。在这里,我们通过分析来自相同遗传标记和标本凭证的序列的一致性,在最基本的水平上检测和量化错误。我们的分析表明,32%的重新测序凭证(具有相同的田野或博物馆编号)产生不相等的序列,从少量突变到显著差异(0.06%-33.95%)不等。这些差异可能是由于样品错误鉴定、标记错误、测序方法之间的保真度差异或研究过程各个阶段的污染造成的。我们的研究结果证明了GenBank在最基础的水平上存在错误,并表明,尽管无法检测到,但在非重新测序的数据中可能存在类似的错误率。这些先前被忽视的错误令人担忧,因为它们来自于不常见的重复实验,并对未重新测序的标本的可靠性提出了严重的质疑。这些错误可能会通过人为夸大种内差异或错误识别(待描述)物种而损害生物多样性评估(如分类评估、eDNA和条形码)、系统发育分析和保护规划的准确性。此外,依赖此类数据的大规模生物学研究的准确性可能会受到损害。我们关注的结果要求在数据生成、分析和存储在数据库中的整个过程中确保样品可追溯到标本或组织的协议。我们提出了一个第三方注释系统,用于单个GenBank记录,可以标记常见错误,并在不修改原始记录的情况下提醒原始提交者和所有用户潜在的问题。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
In Vouchers We (Hope to) Trust: Unveiling Hidden Errors in GenBank's Tetrapod Taxonomic Foundations.

Genetic repositories are invaluable resources foundational to various biological disciplines. While their data and metadata reliability are essential for robust research outcomes, numerous studies have highlighted data quality and consistency issues. Here, we detect and quantify errors at the most fundamental level by analysing the congruence of sequences derived from the same genetic marker and specimen voucher across tetrapods. Our analysis reveals that 32% of re-sequenced vouchers (with identical field or museum numbers) yield unequal sequences, ranging from a few mutations to significant divergences (0.06%-33.95%). These divergences may result from sample misidentification, labelling errors, fidelity disparities between sequencing methods, or contamination at various stages of the research process. Our findings demonstrate errors within GenBank at its most basal level and suggest that, although undetectable, a similar error rate likely exists in non-re-sequenced data. These previously overlooked errors are concerning because they arise from replicated experiments, which are uncommon, and raise serious questions about the reliability of non-re-sequenced specimens. Such errors can compromise the accuracy of biodiversity assessments (e.g., taxonomic assessment, eDNA and barcoding), phylogenetic analyses and conservation planning by artificially inflating the intraspecific divergence or misidentifying (to-be-described) species. Additionally, the accuracy of large-scale biological studies that rely on such data can be compromised. Our concerning results call for protocols ensuring sample traceability to the specimens or tissues during the whole process of data generation, analysis and deposition in a database. We propose a third-party annotation system for individual GenBank records that would allow flagging common errors and alert both the original submitter and all users to potential problems without modifying the original records.

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来源期刊
Molecular Ecology
Molecular Ecology 生物-进化生物学
CiteScore
8.40
自引率
10.20%
发文量
472
审稿时长
1 months
期刊介绍: Molecular Ecology publishes papers that utilize molecular genetic techniques to address consequential questions in ecology, evolution, behaviour and conservation. Studies may employ neutral markers for inference about ecological and evolutionary processes or examine ecologically important genes and their products directly. We discourage papers that are primarily descriptive and are relevant only to the taxon being studied. Papers reporting on molecular marker development, molecular diagnostics, barcoding, or DNA taxonomy, or technical methods should be re-directed to our sister journal, Molecular Ecology Resources. Likewise, papers with a strongly applied focus should be submitted to Evolutionary Applications. Research areas of interest to Molecular Ecology include: * population structure and phylogeography * reproductive strategies * relatedness and kin selection * sex allocation * population genetic theory * analytical methods development * conservation genetics * speciation genetics * microbial biodiversity * evolutionary dynamics of QTLs * ecological interactions * molecular adaptation and environmental genomics * impact of genetically modified organisms
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