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Record W4414089767 · doi:10.1038/s41588-025-02307-x

DNA methylation cooperates with genomic alterations during non-small cell lung cancer evolution

2025· article· en· W4414089767 on OpenAlexaff
Francisco Gimeno-Valiente, Carla Castignani, Elizabeth Larose Cadieux, Nana Mensah, Xiaohong Liu, Kezhong Chen, Olga Chervova, Takahiro Karasaki, Clare E. Weeden, Corentin Richard, Siqi Lai, Carlos Martínez‐Ruiz, Emilia L. Lim, Alexander M. Frankell, Thomas B.K. Watkins, Georgia Stavrou, Ieva Usaite, Wei-Ting Lu, Daniele Marinelli, Sadegh Saghafinia, Gareth A. Wilson, Pawan Dhami, Heli Vaikkinen, Jonathan Steif, Selvaraju Veeriah, Robert E. Hynds, Martin Hirst, Crispin T. Hiley, Andrew Feber, Özgen Deniz, Mariam Jamal‐Hanjani, Nicholas McGranahan, Robert Bentham, Thomas Peter Jones, James R. Black, Michelle Dietzen, Maria Litovchenko, Kerstin Thol, Abigail Bunkum, Sonya Hessey, Wing Kin Liu, Nicolai J. Birkbak, Ariana Huebner, Clare Puttick, David A. Moore, Dhruva Biswas, Kristiana Grigoriadis, Maise Al Bakir, Olivia Lucas, Roberto Vendramin, Sophia Ward, S. Harries, Simone Zaccaria, Rija Zaidi, Lucrezia Patruno, Despoina Karagianni, Sergio A. Quezada, Supreet Kaur Bola, Martin Förster, Siow Ming Lee, Cristina Naceur‐Lombardelli, Krupa Thakkar, Monica Sivakumar, Sharon Vanloo, Antonia Toncheva, Paulina Prymas, Michalina Magala, Elizabeth Keene, Michelle Leung, Jeanette Kittel, Kerstin Haase, Rachel Scott, C. Donovan Bailey, Oriol Pich, Rachel Rosenthal, Andrew Rowan, Claudia Lee, Emma Colliver, Katey S.S. Enfield, Mihaela Angelova, Cian Murphy, Maria Zagorulya, Jayant K. Rane, Zhihui Zhang, Sarah Benafif, Dionysis Papadatos-Pastos, James M. Wilson, Tanya Ahmad, Teresa Marafioti, Elaine Borg, Mary Falzon, Reena Khiroya, Yien Ning Sophia Wong, Emilie Martinoni Hoogenboom, Fleur Monk, James W. Holding, Junaid Choudhary, Kunal Bhakhri, Pat Gorman, Robert Stephens, Maria Chiara Pisciella, Steve Bandula, Jérôme Nicod, Angela Dwornik, Angeliki Karamani, Benny Chain, David R. Pearce, Gerasimos-Theodoros Mastrokalos, Helen L. Lowe, James L. Reading, John Hartley, Kayalvizhi Selvaraju, Leah Ensell, Mansi Shah, Piotr Pawlik, Samuel Gamble, Seng Kuong Anakin Ung, Victoria J. Spanswick, Yin Wu, J.F. Lester, Sean Dulloo, Dean A. Fennell, Amrita Bajaj, Apostolos Nakas, Azmina Sodha-Ramdeen, Mohamad Tufail, Molly Scotland, Rebecca Boyles, Sridhar Rathinam, Claire Wilson, Gurdeep Matharu, Jacqui Shaw, Ekaterini Boleti, Heather Cheyne, Mohammed S. Khalil, Shirley Richardson, Tracey Cruickshank, Gillian Price, Keith M. Kerr, Jack French, Kayleigh Gilbert, Babu Naidu, Akshay J. Patel, Gary Middleton, Aya Osman, Mandeesh Sangha, Gerald Langman, Helen Shackleford, Madava Djearaman, Angela Leek, Jack Davies Hodgkinson, Nikki Totton, Philip Crosbie, Eustace Fontaine, Felice Granato, Juliette Novasio, Kendadai Rammohan, Leena Dennis Joseph, Vijay Joshi, Sara Waplington, Katherine D. Brown, Mathew Carter, Anshuman Chaturvedi, Pedro Oliveira, Colin R. Lindsay, Fiona Blackhall, Yvonne Summers, Jonathan Tugwood, Caroline Dive, Matthew Krebs, António Paiva‐Correia, Hugo J.W.L. Aerts, Roland F. Schwarz, Tom L. Kaufmann, Zoltán Szállási, Miklós Dióssy, Roberto Salgado, George Kassiotis, Imran Noorani, Eva Grönroos, Jacki Goldman, Mickael Escudero, Philip Hobson, Stefan Boeing, Tamara Denner, Vittorio Barbè, William Hill, Yutaka Naito, Erik Sahai, Zoe Ramsden, Emma Nye, Richard Stone, Karl S. Peggs, Catarina Veiga, Gary Royle, Charles‐Antoine Collins‐Fekete, Francesco Fraioli, Paul Ashford, Arjun Nair, Alexander James Procter, Asia Ahmed, Magali N. Taylor, David Lawrence, Davide Patrini, Neal Navani, Ricky M. Thakrar, Sam M. Janes, Zoltán Káplár, Allan Hackshaw, Camilla Pilotti, Rachel Leslie, Anne-Marie Hacker, Sean Smith, Anca Grapa, Hanyun Zhang, Khalid AbdulJabbar, Xiaoxi Pan, Yinyin Yuan, David Chuter, Mairead MacKenzie, Serena Chee, Aiman Alzetani, Judith Cave, Eric Lim, Andrew G. Nicholson, Paulo De Sousa, Simon Jordan, Alexandra Rice, Hilgardt Raubenheimer, Harshil Bhayani, Lyn Ambrose, Anand Devaraj, Hema Chavan, Sofina Begum, Silviu Buderi, Daniel Kaniu, Mpho Malima, Sarah Booth, Nadia Fernandes, Pratibha Shah, Chiara Proli, Madeleine Hewish, Sarah Danson, Michael Shackcloth, Lily Robinson, Peter Russell, Kevin G. Blyth, Andrew Kidd, Craig Dick, John Le Quesne, Allan D. Kirk, Mo Asif, Rocco Bilancia, Nikos Kostoulas, Jennifer Whiteley, Mathew Thomas, Stephan Beck, Jonas Demeulemeester, Miljana Tanić, Charles Swanton, Peter Van Loo, Nnennaya Kanu

Bibliographic record

VenueNature Genetics · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicEpigenetics and DNA Methylation
Canadian institutionsCanada's Michael Smith Genome Sciences CentreUniversity of British Columbia
FundersGeneralitat ValencianaWellcome Trust
KeywordsDNA methylationEpigeneticsGeneChromatinIllumina Methylation AssayBisulfite sequencingLung cancerMethylationDNA

Abstract

fetched live from OpenAlex

Abstract Aberrant DNA methylation has been described in nearly all human cancers, yet its interplay with genomic alterations during tumor evolution is poorly understood. To explore this, we performed reduced representation bisulfite sequencing on 217 tumor and matched normal regions from 59 patients with non-small cell lung cancer from the TRACERx study to deconvolve tumor methylation. We developed two metrics for integrative evolutionary analysis with DNA and RNA sequencing data. Intratumoral methylation distance quantifies intratumor DNA methylation heterogeneity. M R /M N classifies genes based on the rate of hypermethylation at regulatory (M R ) versus nonregulatory (M N ) CpGs to identify driver genes exhibiting recurrent functional hypermethylation. We identified DNA methylation-linked dosage compensation of essential genes co-amplified with neighboring oncogenes. We propose two complementary mechanisms that converge for copy number alteration-affected chromatin to undergo the epigenetic equivalent of an allosteric activity transition. Hypermethylated driver genes under positive selection may open avenues for therapeutic stratification of patients.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.001
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.002
Threshold uncertainty score0.003

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.004
GPT teacher head0.248
Teacher spread0.244 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations7
Published2025
Admission routes1
Has abstractyes

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