The rising tide of cell-free DNA profiling: from snapshot to temporal genome analysis
Author:
Bronkhorst Abel Jacobus1, Ungerer Vida1, Oberhofer Angela1, Holdenrieder Stefan1
Affiliation:
1. Munich Biomarker Research Center , Institute of Laboratory Medicine , German Heart Centre Munich , Technical University Munich , Munich , Germany
Abstract
Abstract
Genomes of diverse origins are continuously shed into human body fluids in the form of fragmented cell-free DNA (cfDNA). These molecules maintain the genetic and epigenetic codes of their originating source, and often carry additional layers of unique information in newly discovered physico-chemical features. Characterization of cfDNA thus presents the opportunity to non-invasively reconstruct major parts of the host- and metagenome in silico. Data from a single specimen can be leveraged to detect a broad range of disease-specific signatures and has already enabled the development of many pioneering diagnostic tests. Moreover, data from serial sampling may allow unparalleled mapping of the scantily explored landscape of temporal genomic changes as it relates to various changes in different physiological and pathological states of individuals. In this review, we explore how this vast dimension of biological information accessible through cfDNA analysis is being tapped towards the development of increasingly powerful molecular assays and how it is shaping emerging technologies. We also discuss how this departure from traditional paradigms of snapshot genetic testing may pave the way for an onrush of new and exciting discoveries in human biology.
Funder
Alexander von Humboldt Foundation
Publisher
Walter de Gruyter GmbH
Subject
Biochemistry (medical),Clinical Biochemistry,Discrete Mathematics and Combinatorics
Reference275 articles.
1. Aucamp, J, Bronkhorst, AJ, Badenhorst, CPS, Pretorius, PJ. The diverse origins of circulating cell-free DNA in the human body: a critical re-evaluation of the literature. Biol Rev Camb Phil Soc 2018;93:1649–83. https://doi.org/10.1111/brv.12413. 2. Grabuschnig, S, Bronkhorst, AJ, Holdenrieder, S, Rosales Rodriguez, I, Schliep, KP, Schwendenwein, D, et al.. Putative origins of cell-free DNA in humans: a review of active and passive nucleic acid release mechanisms. Int J Mol Sci 2020;21:8062. https://doi.org/10.3390/ijms21218062. 3. Thierry, AR, El Messaoudi, S, Gahan, PB, Anker, P, Stroun, M. Origins, structures, and functions of circulating DNA in oncology. Cancer Metastasis Rev 2016;35:347–76. https://doi.org/10.1007/s10555-016-9629-x. 4. Bronkhorst, AJ, Ungerer, V, Diehl, F, Anker, P, Dor, Y, Fleischhacker, M, et al.. Towards systematic nomenclature for cell-free DNA. Hum Genet 2021;140:565–78. https://doi.org/10.1007/s00439-020-02227-2. 5. Bettegowda, C, Sausen, M, Leary, RJ, Kinde, I, Wang, Y, Bartlett, B, et al.. Detection of circulating tumor DNA in early- and late-stage human malignancies. Sci Transl Med 2014;6:224ra24. https://doi.org/10.1093/neuonc/nou206.24.
Cited by
6 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
|
|