Evidence map›Paper›PMID 39406235›Full record

ArticleCell genomics2024

Long-read sequencing of an advanced cancer cohort resolves rearrangements, unravels haplotypes, and reveals methylation landscapes.

Kieran O'Neill, Erin Pleasance, Jeremy Fan, Vahid Akbari, Glenn Chang, Katherine Dixon, Veronika Csizmok, Signe MacLennan, Vanessa Porter, Andrew Galbraith and 28 more

Abstract read
In one paragraph

Article in Cell genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.

0numbers the graph read from it
0cells of the map it votes in
35citing 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

35 citing papers in PubMed.

  1. Trial
  2. Epigenetic Liquid Biopsy Enables Universal Mutation-Agnostic Molecular Surveillance for High-Risk Neuroblastoma.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026
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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

38 authors.

Kieran O'NeillCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.
Erin PleasanceCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.
Jeremy FanCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.
Vahid AkbariCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Glenn ChangCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.
Katherine DixonCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.
Veronika CsizmokCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.
Signe MacLennanCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Michael Smith Laboratories, University of British Columbia, Vancouver, BC, Canada.
Vanessa PorterCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Michael Smith Laboratories, University of British Columbia, Vancouver, BC, Canada.
Andrew GalbraithCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.
Cameron J GrisdaleCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.
Luka CulibrkCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.
John H DupuisCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.
Richard CorbettCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.
James HopkinsCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.
Reanne BowlbyCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.
Pawan PandohCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.
Duane E SmailusCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.
Dean ChengCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.
Tina WongCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.
Connor FreyDepartment of Medicine, University of British Columbia, Vancouver, BC, Canada.
Yaoqing ShenCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.
Eleanor LewisCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.
Luis F PaulinHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Fritz J SedlazeckHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Jessica M T NelsonCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.
Eric ChuahCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.
Karen L MungallCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.
Richard A MooreCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.
Robin CoopeCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.
Andrew J MungallCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.
Melissa K McConechyCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.
Laura M WilliamsonCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.
Kasmintan A SchraderHereditary Cancer Program, BC Cancer, Vancouver, BC, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Stephen YipDepartment of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada.
Marco A MarraCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Michael Smith Laboratories, University of British Columbia, Vancouver, BC, Canada.
Janessa LaskinDepartment of Medical Oncology, BC Cancer, Vancouver, BC, Canada.
Steven J M JonesCanada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada. Electronic address: sjones@bcgsc.ca.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The Long-Read Personalized OncoGenomics (POG) dataset comprises a cohort of 189 patient tumors and 41 matched normal samples sequenced using the Oxford Nanopore Technologies PromethION platform. This dataset from the POG program and the Marathon of Hope Cancer Centres Network includes DNA and RNA short-read sequence data, analytics, and clinical information. We show the potential of long-read sequencing for resolving complex cancer-related structural variants, viral integrations, and extrachromosomal circular DNA. Long-range phasing facilitates the discovery of allelically differentially methylated regions (aDMRs) and allele-specific expression, including recurrent aDMRs in the cancer genes RET and CDKN2A. Germline promoter methylation in MLH1 can be directly observed in Lynch syndrome. Promoter methylation in BRCA1 and RAD51C is a likely driver behind homologous recombination deficiency where no coding driver mutation was found. This dataset demonstrates applications for long-read sequencing in precision medicine and is available as a resource for developing analytical approaches using this technology.

Indexed as

DNA MethylationHaplotypesCohort StudiesGene RearrangementHigh-Throughput Nucleotide SequencingHumansMutL Protein Homolog 1NeoplasmsPromoter Regions, GeneticSequence Analysis, DNAMutL Protein Homolog 1allele-specific expressionallelically differentially methylated regions (aDMRs)cancer genomicsextrachromosomal DNAhomologous recombination deficiencylong-range phasingnanopore long-read sequencingpersonalized medicinestructural variant detectionTFRI MOHCCN

Identifiers

PMID39406235
PMCPMC11605692

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.