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Towards systematic nomenclature for cell-free DNA
Human Genetics ( IF 5.3 ) Pub Date : 2020-10-29 , DOI: 10.1007/s00439-020-02227-2
Abel J. Bronkhorst , Vida Ungerer , Frank Diehl , Philippe Anker , Yuval Dor , Michael Fleischhacker , Peter B. Gahan , Lisa Hui , Stefan Holdenrieder , Alain R. Thierry

Cell-free DNA (cfDNA) has become widely recognized as a promising candidate biomarker for minimally invasive characterization of various genomic disorders and other clinical scenarios. However, among the obstacles that currently challenge the general progression of the research field, there remains an unmet need for unambiguous universal cfDNA nomenclature. To address this shortcoming, we classify in this report the different types of cfDNA molecules that occur in the human body based on its origin, genetic traits, and locality. We proceed by assigning existing terms to each of these cfDNA subtypes, while proposing new terms and abbreviations where clarity is lacking and more precise stratification would be beneficial. We then suggest the proper usage of these terms within different contexts and scenarios, focusing mainly on the nomenclature as it relates to the domains of oncology, prenatal testing, and post-transplant surgery surveillance. We hope that these recommendations will serve as useful considerations towards the establishment of universal cfDNA nomenclature in the future. In addition, it is conceivable that many of these recommendations can be transposed to cell-free RNA nomenclature by simply exchanging “DNA” with “RNA” in each acronym/abbreviation. Similarly, when describing DNA and RNA collectively, the suffix can be replaced with “NAs” to indicate nucleic acids.



中文翻译:

走向无细胞DNA的系统命名法

无细胞DNA(cfDNA)已被广泛认为是用于各种基因组疾病和其他临床情况的微创表征的有前途的候选生物标志物。但是,在当前挑战研究领域总体进展的障碍中,仍然存在对明确的通用cfDNA命名法的未满足的需求。为了解决这个缺点,我们在本报告中根据人的起源,遗传特征和位置对在人体内出现的不同类型的cfDNA分子进行分类。我们将为这些cfDNA亚型中的每一个分配现有术语,同时提出缺乏清晰性和更精确分层的新术语和缩写,这将是有益的。然后,我们建议在不同的上下文和场景中正确使用这些术语,主要关注术语,因为它涉及肿瘤学,产前检测和移植后手术监测领域。我们希望这些建议将为将来建立通用cfDNA命名法提供有益的考虑。另外,可以想象的是,可以通过简单地将每个缩写词中的“ DNA”与“ RNA”交换来将许多建议转化为无细胞RNA命名法。类似地,当共同描述DNA和RNA时,可以将后缀替换为“ NA”以表示核酸。可以想象,只要将每个缩写词中的“ DNA”与“ RNA”互换,就可以将许多建议转化为无细胞RNA命名法。类似地,当共同描述DNA和RNA时,可以将后缀替换为“ NA”以表示核酸。可以想象,只要将每个缩写词中的“ DNA”与“ RNA”互换,就可以将许多建议转化为无细胞RNA命名法。类似地,当共同描述DNA和RNA时,可以将后缀替换为“ NA”以表示核酸。

更新日期:2020-10-30
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