Evidence map›Paper›PMID 36747096›Full record

ArticleNature biotechnology2023

Simultaneous sequencing of genetic and epigenetic bases in DNA.

Jens Füllgrabe, Walraj S Gosal, Páidí Creed, Sidong Liu, Casper K Lumby, David J Morley, Tobias W B Ost, Albert J Vilella, Shirong Yu, Helen Bignell and 29 more

Open access · hybridAbstract read
In one paragraph

Article in Nature biotechnology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 77 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
77citing papers in PubMed, 1 pooled it
17.4field-weighted citation impact, top 1% of its field
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

77 citing papers in PubMed, 1 synthesis or guideline pooled it, 114 citations in OpenAlex.

  1. Pooled it
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  17. HSCs/MPPs as cells of origin with altered differentiation hierarchy impairing immunomicroenvironment inProceedings of the National Academy of Sciences of the United States of America · 2026
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17 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

39 authors at 2 institutions in 2 countries.

Jens Füllgrabe *Cambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Walraj S Gosal *Cambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Páidí CreedCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Sidong LiuCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Casper K LumbyCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.ORCID 0000-0001-8329-9228
David J MorleyCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Tobias W B OstCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Albert J VilellaCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.ORCID 0000-0002-2005-2516
Shirong YuCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Helen BignellCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Philippa BurnsCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Tom CharlesworthCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Beiyuan FuCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Howerd FordhamCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Nicolas J HardingCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Olga GandelmanCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Paula GolderCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Christopher HodsonCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Mengjie LiCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Marjana LilaCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Yang LiuCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Joanne MasonCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Jason MelladCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Jack M MonahanCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.ORCID 0000-0002-0635-0015
Oliver NentwichCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Alexandra PalmerCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Michael StewardCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Minna TaipaleCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Audrey VandommeCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Rita Santo San-BentoCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Ankita SinghalCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Julia VivianCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.ORCID 0000-0001-6688-7714
Natalia WójtowiczCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Nathan WilliamsCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Nicolas J WalkerCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.ORCID 0000-0002-0498-4356
Nicola C H WongCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Gary N YallowayCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK.
Joanna D HolbrookCambridge Epigenetix Ltd, The Trinity Building, Chesterford Research Park, Cambridge, UK. Joanna.holbrook@cegx.co.uk.ORCID 0000-0003-1791-6894
Shankar BalasubramanianCancer Research UK Cambridge Institute, University of Cambridge, Cambridge, UK. sb10031@cam.ac.uk.ORCID 0000-0002-0281-5815
Trinity College · CAUniversity of Cambridge · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

DNA comprises molecular information stored in genetic and epigenetic bases, both of which are vital to our understanding of biology. Most DNA sequencing approaches address either genetics or epigenetics and thus capture incomplete information. Methods widely used to detect epigenetic DNA bases fail to capture common C-to-T mutations or distinguish 5-methylcytosine from 5-hydroxymethylcytosine. We present a single base-resolution sequencing methodology that sequences complete genetics and the two most common cytosine modifications in a single workflow. DNA is copied and bases are enzymatically converted. Coupled decoding of bases across the original and copy strand provides a phased digital readout. Methods are demonstrated on human genomic DNA and cell-free DNA from a blood sample of a patient with cancer. The approach is accurate, requires low DNA input and has a simple workflow and analysis pipeline. Simultaneous, phased reading of genetic and epigenetic bases provides a more complete picture of the information stored in genomes and has applications throughout biomedicine.

Indexed as

Epigenesis, GeneticSequence Analysis, DNA5-MethylcytosineDNADNA MethylationEpigenomicsGenome, HumanHigh-Throughput Nucleotide SequencingHumans5-hydroxymethylcytosine5-MethylcytosineDNA

Identifiers

PMID36747096
PMCPMC10567558
OpenAlexW4319310816

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.