ArticleGenes & genomics2023
Identification of DNA methylation and genetic alteration simultaneously from a single blood biopsy.
Article in Genes & genomics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 23 citations in OpenAlex.
- DNA hypomethylation identifying clinical benefit subgroup of small-cell lung cancer: multi-omics analysis of a phase II trial with durvalumab plus olaparib as maintenance therapy.Journal for immunotherapy of cancer · 2026Trial
- Placental DNA methylation dysregulation underlies fetal growth restriction associated with maternal pre-pregnancy underweight.BMC pregnancy and childbirth · 2026Article
- Integrated analysis of DNA methylome and transcriptome of the backfat and longissimus dorsi muscle of Chinese-European hybrid pigs.BMC genomics · 2026Article
- The INSPECTOR study: enhanced feasibility for clinical translation of a multi-cancer early detection method based on enzyme-assisted high signal-to-noise ratio sequencing of methylated circulating tumor DNA.Cancer communications (London, England) · 2025Article
- Comprehensive assessment of homologous recombination deficiency via simultaneous methylation and mutation analysis in epithelial ovarian cancer: implications for PARP inhibitors efficacy.Biomarker research · 2025Article
- DNA methylation mediates the immunosuppressive tumour microenvironment in metastatic endometrial clear cell carcinoma.EBioMedicine · 2025Article
- ctDNA methylation profiling reveals NBL1 as a promising biomarker for early ovarian cancer screening.World journal of surgical oncology · 2025Article
- cfDNA methylation detection as potential liquid biopsy of multiple organ injury in myocarditis patients.Clinical epigenetics · 2025Article
- Evaluative Methodology for HRD Testing: Development of Standard Tools for Consistency Assessment.Genomics, proteomics & bioinformatics · 2025Article
- Analysis of methylation features associated with neoadjuvant efficacy in HER2-positive breast cancer.Frontiers in oncology · 2025Article
- A promising application of kidney-specific cell-free DNA methylation markers in real-time monitoring sepsis-induced acute kidney injury.Epigenetics · 2024Article
- Cell-free DNA methylation reveals cell-specific tissue injury and correlates with disease severity and patient outcomes in COVID-19.Clinical epigenetics · 2024Article
- Epigenetic reshaping through damage: promoting cell fate transition by BrdU and IdU incorporation.Cell & bioscience · 2024Article
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Authors and funding
17 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHigh-throughput sequencing of blood cell-free DNA (cfDNA) techniques offer an opportunity to characterize and monitor cancer rapidly in a non-invasive and real-time manner. Nonetheless, there lacks a tool within therapeutic arsenal to identify multi-omics alterations simultaneously from a single biopsy. In current times, bisulfite-based sequencing detects 5mC and 5hmC at single-base resolution is the golden standard of DNA methylation, while the degradation of DNA and biased sequencing data are the problems of this method.
objectiveTo identify the consistency analysis of methylation and genetic variation with single library, we presented a platform detecting multi-omics data simultaneously from a single blood biopsy using bisulfite-free method of genomic methylation sequencing (GM-seq) mediated by TET enzyme.
methodsWe detected methylomic and genetic changes simultaneously from a single blood biopsy in NA12878 and randomly chose ten blood biopsies from colorectal cancer or lung cancer patients to validate the ability of GM-seq.
resultsSimilar cytosine methylation level between whole genome bisulfite sequencing (WGBS) and GM-seq were identified in NA12878. Moreover, longer insert size, CpGs coverage and GC distribution were outperformed than WGBS. In addition, the comparison of the single nucleotide polymorphism (SNP), insertion-deletion (Indel) and copy number variation (CNV) in NA12878 or ctDNA from liver cancer between GM-seq and whole genome sequencing (WGS) show a good consistency, indicating that this method is feasible for detecting genetic variation in blood.
conclusionIn conclusion, our work demonstrated a method for identification of the methylated modification and genetic variations simultaneously from a single blood biopsy.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.