Phenotypes from cell-free DNA

Cell-free DNA (cfDNA) has the potential to enable non-invasive detection of disease states and progression. Beyond its sequence, cfDNA also represents the nucleosomal landscape of cell(s)-of-origin and captures the dynamics of the epigenome. In this review, we highlight the emergence of cfDNA epigen...

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Main Authors: Alexis Zukowski, Satyanarayan Rao, Srinivas Ramachandran
Format: Article
Language:English
Published: The Royal Society 2020-09-01
Series:Open Biology
Subjects:
Online Access:https://royalsocietypublishing.org/doi/pdf/10.1098/rsob.200119
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author Alexis Zukowski
Satyanarayan Rao
Srinivas Ramachandran
author_facet Alexis Zukowski
Satyanarayan Rao
Srinivas Ramachandran
author_sort Alexis Zukowski
collection DOAJ
description Cell-free DNA (cfDNA) has the potential to enable non-invasive detection of disease states and progression. Beyond its sequence, cfDNA also represents the nucleosomal landscape of cell(s)-of-origin and captures the dynamics of the epigenome. In this review, we highlight the emergence of cfDNA epigenomic methods that assess disease beyond the scope of mutant tumour genotyping. Detection of tumour mutations is the gold standard for sequencing methods in clinical oncology. However, limitations inherent to mutation targeting in cfDNA, and the possibilities of uncovering molecular mechanisms underlying disease, have made epigenomics of cfDNA an exciting alternative. We discuss the epigenomic information revealed by cfDNA, and how epigenomic methods exploit cfDNA to detect and characterize cancer. Future applications of cfDNA epigenomic methods to act complementarily and orthogonally to current clinical practices has the potential to transform cancer management and improve cancer patient outcomes.
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spelling doaj.art-957ed36771cf4c6da415f589ef0e54d42022-12-21T19:11:45ZengThe Royal SocietyOpen Biology2046-24412020-09-0110910.1098/rsob.200119200119Phenotypes from cell-free DNAAlexis ZukowskiSatyanarayan RaoSrinivas RamachandranCell-free DNA (cfDNA) has the potential to enable non-invasive detection of disease states and progression. Beyond its sequence, cfDNA also represents the nucleosomal landscape of cell(s)-of-origin and captures the dynamics of the epigenome. In this review, we highlight the emergence of cfDNA epigenomic methods that assess disease beyond the scope of mutant tumour genotyping. Detection of tumour mutations is the gold standard for sequencing methods in clinical oncology. However, limitations inherent to mutation targeting in cfDNA, and the possibilities of uncovering molecular mechanisms underlying disease, have made epigenomics of cfDNA an exciting alternative. We discuss the epigenomic information revealed by cfDNA, and how epigenomic methods exploit cfDNA to detect and characterize cancer. Future applications of cfDNA epigenomic methods to act complementarily and orthogonally to current clinical practices has the potential to transform cancer management and improve cancer patient outcomes.https://royalsocietypublishing.org/doi/pdf/10.1098/rsob.200119cell-free dnachromatin dynamicssubnucleosomescancer biomarkerdna methylation
spellingShingle Alexis Zukowski
Satyanarayan Rao
Srinivas Ramachandran
Phenotypes from cell-free DNA
Open Biology
cell-free dna
chromatin dynamics
subnucleosomes
cancer biomarker
dna methylation
title Phenotypes from cell-free DNA
title_full Phenotypes from cell-free DNA
title_fullStr Phenotypes from cell-free DNA
title_full_unstemmed Phenotypes from cell-free DNA
title_short Phenotypes from cell-free DNA
title_sort phenotypes from cell free dna
topic cell-free dna
chromatin dynamics
subnucleosomes
cancer biomarker
dna methylation
url https://royalsocietypublishing.org/doi/pdf/10.1098/rsob.200119
work_keys_str_mv AT alexiszukowski phenotypesfromcellfreedna
AT satyanarayanrao phenotypesfromcellfreedna
AT srinivasramachandran phenotypesfromcellfreedna