Towards systematic nomenclature for cell-free DNA.
Towards systematic nomenclature for cell-free DNA.
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DOI：
10.1007/s00439-020-02227-2
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发表时间：
2021-04
期刊：
影响因子：
5.3
通讯作者：
Thierry AR
中科院分区：
文献类型：
--
作者：
Bronkhorst AJ;Ungerer V;Diehl F;Anker P;Dor Y;Fleischhacker M;Gahan PB;Hui L;Holdenrieder S;Thierry AR
无细胞DNA（cfDNA）已被广泛认为是一种有前途的候选生物标志物，用于各种基因组疾病和其他临床情况的微创表征。然而，在目前挑战研究领域的总体进展的障碍中，仍然存在对明确的通用cfDNA命名法的未满足的需求。为了解决这一缺点，我们在本报告中根据其起源，遗传特征和位置对人体中存在的不同类型的cfDNA分子进行了分类。我们继续将现有术语分配给这些cfDNA亚型中的每一个，同时在缺乏清晰度的情况下提出新的术语和缩写，并且更精确的分层将是有益的。然后，我们建议在不同的背景和情况下正确使用这些术语，主要集中在命名，因为它涉及到肿瘤学，产前检测和移植手术后监测领域。我们希望这些建议将作为未来建立通用cfDNA命名法的有益考虑。此外，可以想象的是，这些建议中的许多建议可以通过简单地将每个首字母缩略词/缩写中的“DNA”与“RNA”交换来转置为无细胞RNA命名法。类似地，当共同描述DNA和RNA时，后缀可以用“NA”代替以指示核酸。
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.
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DOI：
10.1056/nejmoa1409405
发表时间：
2014-12-25
期刊：
The New England journal of medicine
影响因子：
--
作者：
Genovese G;Kähler AK;Handsaker RE;Lindberg J;Rose SA;Bakhoum SF;Chambert K;Mick E;Neale BM;Fromer M;Purcell SM;Svantesson O;Landén M;Höglund M;Lehmann S;Gabriel SB;Moran JL;Lander ES;Sullivan PF;Sklar P;Grönberg H;Hultman CM;McCarroll SA
通讯作者：
McCarroll SA
影响因子：
17.1
作者：
De Vlaminck I;Valantine HA;Snyder TM;Strehl C;Cohen G;Luikart H;Neff NF;Okamoto J;Bernstein D;Weisshaar D;Quake SR;Khush KK
通讯作者：
Khush KK
DOI：
10.1056/nejmoa1614814
发表时间：
2017-05-11
期刊：
The New England journal of medicine
影响因子：
--
作者：
Anglesio MS;Papadopoulos N;Ayhan A;Nazeran TM;Noë M;Horlings HM;Lum A;Jones S;Senz J;Seckin T;Ho J;Wu RC;Lac V;Ogawa H;Tessier-Cloutier B;Alhassan R;Wang A;Wang Y;Cohen JD;Wong F;Hasanovic A;Orr N;Zhang M;Popoli M;McMahon W;Wood LD;Mattox A;Allaire C;Segars J;Williams C;Tomasetti C;Boyd N;Kinzler KW;Gilks CB;Diaz L;Wang TL;Vogelstein B;Yong PJ;Huntsman DG;Shih IM
通讯作者：
Shih IM
影响因子：
5.4
作者：
Chitty, Lyn S.;Lo, Y. M. Dennis
通讯作者：
Lo, Y. M. Dennis
影响因子：
11.1
作者：
Fernandez-Cuesta L;Perdomo S;Avogbe PH;Leblay N;Delhomme TM;Gaborieau V;Abedi-Ardekani B;Chanudet E;Olivier M;Zaridze D;Mukeria A;Vilensky M;Holcatova I;Polesel J;Simonato L;Canova C;Lagiou P;Brambilla C;Brambilla E;Byrnes G;Scelo G;Le Calvez-Kelm F;Foll M;McKay JD;Brennan P
通讯作者：
Brennan P