Evidence map›Paper›PMID 36195755›Full record

ArticleNature genetics2022

Long-range phasing of dynamic, tissue-specific and allele-specific regulatory elements.

Sofia Battaglia, Kevin Dong, Jingyi Wu, Zeyu Chen, Fadi J Najm, Yuanyuan Zhang, Molly M Moore, Vivian Hecht, Noam Shoresh, Bradley E Bernstein

Abstract read
In one paragraph

Article in Nature genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.

0numbers the graph read from it
0cells of the map it votes in
45citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

45 citing papers in PubMed.

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  18. Efficient, scalable, and near-nucleotide-resolution profiling of protein occupancy in the genome with deaminases.Proceedings of the National Academy of Sciences of the United States of America · 2025
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Sofia Battaglia *Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA.
Kevin Dong *Gene Regulation Observatory, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jingyi Wu *Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA.
Zeyu ChenDepartment of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA.
Fadi J NajmGene Regulation Observatory, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Yuanyuan ZhangDepartment of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA.
Molly M MooreGene Regulation Observatory, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-7833-0769
Vivian HechtGene Regulation Observatory, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Noam ShoreshGene Regulation Observatory, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Bradley E BernsteinDepartment of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA. bradley_bernstein@dfci.harvard.edu.ORCID http://orcid.org/0000-0002-5726-6278

Funding

Epigenetic plasticity in tumor initiation and evolutionDP1CA216873 · NCI · MASSACHUSETTS GENERAL HOSPITAL · PI BERNSTEIN, BRADLEY EVAN · 2016 to 2020
$5.9M
Investigating molecular mechanism of immune response during cancer progressionK00CA234842 · NCI · MASSACHUSETTS GENERAL HOSPITAL · PI CHEN, ZEYU · 2021 to 2024
$370k
NCI NIH HHS DP1 CA216873NCI NIH HHS K00 CA234842
6 · The paper itself

Abstract

Epigenomic maps identify gene regulatory elements by their chromatin state. However, prevailing short-read sequencing methods cannot effectively distinguish alleles, evaluate the interdependence of elements in a locus or capture single-molecule dynamics. Here, we apply targeted nanopore sequencing to profile chromatin accessibility and DNA methylation on contiguous ~100-kb DNA molecules that span loci relevant to development, immunity and imprinting. We detect promoters, enhancers, insulators and transcription factor footprints on single molecules based on exogenous GpC methylation. We infer relationships among dynamic elements within immune loci, and order successive remodeling events during T cell stimulation. Finally, we phase primary sequence and regulatory elements across the H19/IGF2 locus, uncovering primate-specific features. These include a segmental duplication that stabilizes the imprinting control region and a noncanonical enhancer that drives biallelic IGF2 expression in specific contexts. Our study advances emerging strategies for phasing gene regulatory landscapes and reveals a mechanism that overrides IGF2 imprinting in human cells.

Indexed as

Genomic ImprintingRNA, Long NoncodingAllelesAnimalsChromatinDNADNA MethylationEnhancer Elements, GeneticHumansInsulin-Like Growth Factor IITranscription FactorsChromatinDNAInsulin-Like Growth Factor IIRNA, Long NoncodingTranscription Factors

Identifiers

PMID36195755
PMCPMC10567064

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Registered trials

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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.