The rising tide of cell-free DNA profiling: from snapshot to temporal genome analysis
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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
De Gruyter
2022-08-01
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| Series: | Journal of Laboratory Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1515/labmed-2022-0030 |
| _version_ | 1828099754228187136 |
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| author | Bronkhorst Abel Jacobus Ungerer Vida Oberhofer Angela Holdenrieder Stefan |
| author_facet | Bronkhorst Abel Jacobus Ungerer Vida Oberhofer Angela Holdenrieder Stefan |
| author_sort | Bronkhorst Abel Jacobus |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-11T08:18:26Z |
| format | Article |
| id | doaj.art-aae70aa93ab142fb9b59f038ab130c8a |
| institution | Directory Open Access Journal |
| issn | 2567-9430 2567-9449 |
| language | English |
| last_indexed | 2024-04-11T08:18:26Z |
| publishDate | 2022-08-01 |
| publisher | De Gruyter |
| record_format | Article |
| series | Journal of Laboratory Medicine |
| spelling | doaj.art-aae70aa93ab142fb9b59f038ab130c8a2022-12-22T04:35:04ZengDe GruyterJournal of Laboratory Medicine2567-94302567-94492022-08-0146420722410.1515/labmed-2022-0030The rising tide of cell-free DNA profiling: from snapshot to temporal genome analysisBronkhorst Abel Jacobus0Ungerer Vida1Oberhofer Angela2Holdenrieder Stefan3Munich Biomarker Research Center, Institute of Laboratory Medicine, German Heart Centre Munich, Technical University Munich, 80636 Munich, GermanyMunich Biomarker Research Center, Institute of Laboratory Medicine, German Heart Centre Munich, Technical University Munich, 80636 Munich, GermanyMunich Biomarker Research Center, Institute of Laboratory Medicine, German Heart Centre Munich, Technical University Munich, 80636 Munich, GermanyMunich Biomarker Research Center, Institute of Laboratory Medicine, German Heart Centre Munich, Technical University Munich, 80636 Munich, GermanyGenomes 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.https://doi.org/10.1515/labmed-2022-0030cell-free dnacirculating tumor dnaliquid biopsy |
| spellingShingle | Bronkhorst Abel Jacobus Ungerer Vida Oberhofer Angela Holdenrieder Stefan The rising tide of cell-free DNA profiling: from snapshot to temporal genome analysis Journal of Laboratory Medicine cell-free dna circulating tumor dna liquid biopsy |
| title | The rising tide of cell-free DNA profiling: from snapshot to temporal genome analysis |
| title_full | The rising tide of cell-free DNA profiling: from snapshot to temporal genome analysis |
| title_fullStr | The rising tide of cell-free DNA profiling: from snapshot to temporal genome analysis |
| title_full_unstemmed | The rising tide of cell-free DNA profiling: from snapshot to temporal genome analysis |
| title_short | The rising tide of cell-free DNA profiling: from snapshot to temporal genome analysis |
| title_sort | rising tide of cell free dna profiling from snapshot to temporal genome analysis |
| topic | cell-free dna circulating tumor dna liquid biopsy |
| url | https://doi.org/10.1515/labmed-2022-0030 |
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