ArticleNature genetics2017
Identification of methylation haplotype blocks aids in deconvolution of heterogeneous tissue samples and tumor tissue-of-origin mapping from plasma DNA.
Article in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 8 registered trials, which are not on this map. Cited by 309 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Gastric Cancer Detection by Liquid Biopsy in Peripheral Blood: A Prospective Study
A Case-control, Non-intervention Study for Gastric Cancer Screening
A Community Population Screening Cohort Study Based on Polygene Methylation Detection for Colorectal Cancer in Yangzhou
Detection of Peritoneal Metastasis of Gastric Cancer by Liquid Biopsy in Peripheral Blood: A Prospective Study
Establishment of Molecular Classification Models for Early Diagnosis of Digestive System Cancers
Colorectal Cancer Screening Cohort Study in Shougang Community Population Based on Polygene Methylation Detection Technology
Pancreatic Cancer Detection by Liquid Biopsy in Peripheral Blood: A Prospective Study
Pancreatic Cancer Detection by Liquid Biopsy in Peripheral Blood: A Prospective Study
Who cites it
309 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Epigenome-wide DNA methylation in externalizing behaviours: A review and combined analysis.Neuroscience and biobehavioral reviews · 2023Pooled it
- Meta-analysis of genome-wide DNA methylation and integrative omics of age in human skeletal muscle.Journal of cachexia, sarcopenia and muscle · 2021Pooled it
- Discovery and validation of methylation signatures in circulating cell-free DNA for early detection of esophageal cancer: a case-control study.BMC medicine · 2021Trial
- Decoding coupled epigenetic-fragmentomic signals in circulating cell-free DNA for interpretable cancer diagnosis.Genome medicine · 2026Article
- A cross-species single-cell kidney epigenome atlas reveals epithelial-dominant aging-like states in disease.Nature aging · 2026Article
- DiffMethylTools: a toolbox for the detection, annotation, and visualization of differential methylation.Life science alliance · 2026Article
- DNAmBERT: a transformer-based model for non-invasive cancer diagnosis using DNA sequence and methylation data.Briefings in bioinformatics · 2026Article
- Written in blood: DNA methylation in liquid biopsy.Nature reviews. Genetics · 2026Article
- Pattools‑implemented methylation vector analysis reveals aberrant subtype‑specific methylation in lung cancer across tissue and plasma cfDNA.Clinical and translational medicine · 2026Article
- Epigenetic Profiling for Early Detection and Treatment Response Monitoring in Non-Small Cell Lung Cancer: Protocol for a Prospective Translational Biomarker Study.JMIR research protocols · 2026Article
- A Noninvasive Circulating Tumor DNA Methylation Classifier to Identify Benign Pulmonary Nodules.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026Article
- Genome-wide DNA methylation analysis revealed epigenetic mechanism underlying end-stage renal disease.Nature communications · 2026Article
- Genome-Wide Assessment of DNA Methylation Fidelity Identifies Representative Ovarian Cancer Cell Line Models.Journal of cellular and molecular medicine · 2026Article
- An integrative epigenomic and single-cell framework identifies a prognostic DNA methylation risk score and ZNF638 silencing in urothelial carcinoma.Journal of translational medicine · 2026Article
- DNA methylation clock in bull sperm cells reveals the epigenetic aging characteristics and impact on fertility.Journal of animal science and biotechnology · 2026Article
- MethylSense: high accuracy machine learning-based diagnostics forJournal of clinical microbiology · 2026Article
- Epigenetic conditioning improves sequence-based modeling of gene regulation across cell types and alleles.bioRxiv : the preprint server for biology · 2026Article
- The significance of urine extracellular vesicle DNA methylation detection in the diagnosis and classification of prostate cancer.Journal of advanced research · 2026Article
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249 more citing papers are in PubMed but not listed here.
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Abstract
Adjacent CpG sites in mammalian genomes can be co-methylated owing to the processivity of methyltransferases or demethylases, yet discordant methylation patterns have also been observed, which are related to stochastic or uncoordinated molecular processes. We focused on a systematic search and investigation of regions in the full human genome that show highly coordinated methylation. We defined 147,888 blocks of tightly coupled CpG sites, called methylation haplotype blocks, after analysis of 61 whole-genome bisulfite sequencing data sets and validation with 101 reduced-representation bisulfite sequencing data sets and 637 methylation array data sets. Using a metric called methylation haplotype load, we performed tissue-specific methylation analysis at the block level. Subsets of informative blocks were further identified for deconvolution of heterogeneous samples. Finally, using methylation haplotypes we demonstrated quantitative estimation of tumor load and tissue-of-origin mapping in the circulating cell-free DNA of 59 patients with lung or colorectal cancer.
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Registered trials
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.