ArticleNature genetics2018
Insights into imprinting from parent-of-origin phased methylomes and transcriptomes.
Article in Nature genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers, 2 of them syntheses that pooled it.
What it found
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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.
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Who cites it
72 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Regulation of nc886 (vtRNA2-1) RNAs is associated with cardiometabolic risk factors and diseases.Clinical epigenetics · 2025Pooled it
- A meta-analysis uncovers the first sequence variant conferring risk of Bell's palsy.Scientific reports · 2021Pooled it
- Nanopore sequencing identifies parent-of-origin specific age-associated methylation changes at imprinted loci in the human genome.Nature communications · 2026Article
- Haplotype-resolved methylomes reveal parent-of-origin DNA methylation imbalance in autism spectrum disorder.Science advances · 2026Article
- Article
- Computational analysis of DNA methylation from long-read sequencing.Nature reviews. Genetics · 2025Review
- Germline variants inProceedings of the National Academy of Sciences of the United States of America · 2025Article
- Genetic/epigenetic DNA markers for linking suspects and tissues in complex crime scenes.Briefings in bioinformatics · 2025Article
- Sequence and parent-of-origin dependent mThe EMBO journal · 2025Article
- Abundant Parent-of-origin Effect eQTL: The Framingham Heart Study.bioRxiv : the preprint server for biology · 2025Article
- Atlas of imprinted and allele-specific DNA methylation in the human body.Nature communications · 2025Article
- Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignature.Clinical epigenetics · 2025Article
- Non-coding 886 (Epigenetics · 2024Review
- AIMER: A SNP-independent software for identifying imprinting-like allelic methylated regions from DNA methylome.Computational and structural biotechnology journal · 2024Article
- The correlation between CpG methylation and gene expression is driven by sequence variants.Nature genetics · 2024Article
- Characterization of the genetic determinants of context-specific DNA methylation in primary monocytes.Cell genomics · 2024Article
- A novel imprinted locus on bovine chromosome 18 homologous with human chromosome 16q24.1.Molecular genetics and genomics : MGG · 2024Article
- A comparison of methods for detecting DNA methylation from long-read sequencing of human genomes.Genome biology · 2024Article
- Allelic reprogramming of chromatin states in human early embryos.National science review · 2024Article
- The role of long non-coding RNAs and circular RNAs in cervical cancer: modulating miRNA function.Frontiers in cell and developmental biology · 2024Review
12 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
26 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Imprinting is the preferential expression of one parental allele over the other. It is controlled primarily through differential methylation of cytosine at CpG dinucleotides. Here we combine 285 methylomes and 11,617 transcriptomes from peripheral blood samples with parent-of-origin phased haplotypes, to produce a new map of imprinted methylation and gene expression patterns across the human genome. We demonstrate how imprinted methylation is a continuous rather than a binary characteristic. We describe at high resolution the parent-of-origin methylation pattern at the 15q11.2 Prader-Willi/Angelman syndrome locus, with nearly confluent stochastic paternal methylation punctuated by 'spikes' of maternal methylation. We find examples of polymorphic imprinted methylation unrelated (at VTRNA2-1 and PARD6G) or related (at CHRNE) to nearby SNP genotypes. We observe RNA isoform-specific imprinted expression patterns suggestive of a methylation-sensitive transcriptional elongation block. Finally, we gain new insights into parent-of-origin-specific effects on phenotypes at the DLK1/MEG3 and GNAS loci.
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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.