Evidence map›Paper›PMID 18987736›Full record

ArticleNature2008

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.

Timothy J Ley, Elaine R Mardis, Li Ding, Bob Fulton, Michael D McLellan, Ken Chen, David Dooling, Brian H Dunford-Shore, Sean McGrath, Matthew Hickenbotham and 38 more

Registry-linked trialOpen access · hybridAbstract read
In one paragraph

Article in Nature, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04446741 (Developing a Molecular Diagnostic Platform for Personalized Medicine for Acute Myeloid Leukemia), which is not on this map. Cited by 638 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
638citing papers in PubMed, 2 pooled it
73.7field-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.

NCT04446741 unknown statusnot on this mapstarted 2019, after this paper: background citation

Developing a Molecular Diagnostic Platform for Personalized Medicine for Acute Myeloid Leukemia

TypeobservationalSponsorPETHEMA FoundationRan2019 to 2022Enrolled2,000ConditionsAcute Myeloid Leukemia (AML)
3 · Its place in the literature

Who cites it

638 citing papers in PubMed, 2 syntheses or guidelines pooled it, 1,432 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Trial
  4. Trial
  5. Review
  6. Cancers · 2026
    Review
  7. Article
  8. Review
  9. Article
  10. Article
  11. Review
  12. Article
  13. Review
  14. Article
  15. Oncogenic gene fusions in cancer: from biology to therapy.Signal transduction and targeted therapy · 2025
    Review
  16. Review
  17. Review
  18. The Use of Next-Generation Sequencing in Personalized Medicine.Methods in molecular biology (Clifton, N.J.) · 2025
    Review
  19. Article
  20. Whole-Genome Sequencing Reveals the Progress of Genetic Breeding inAnimals : an open access journal from MDPI · 2025
    Article

578 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

48 authors at 5 institutions in 1 country.

Timothy J LeyDepartment of Medicine, Washington University School of Medicine, St. Louis, Missouri 63108, USA.
Elaine R Mardis
Li Ding
Bob Fulton
Michael D McLellan
Ken Chen
David Dooling
Brian H Dunford-Shore
Sean McGrath
Matthew Hickenbotham
Lisa Cook
Rachel Abbott
David E Larson
Dan C Koboldt
Craig Pohl
Scott Smith
Amy Hawkins
Scott Abbott
Devin Locke
Ladeana W Hillier
Tracie Miner
Lucinda Fulton
Vincent Magrini
Todd Wylie
Jarret Glasscock
Joshua Conyers
Nathan Sander
Xiaoqi Shi
John R Osborne
Patrick Minx
David Gordon
Asif Chinwalla
Yu Zhao
Rhonda E Ries
Jacqueline E Payton
Peter Westervelt
Michael H Tomasson
Mark Watson
Jack Baty
Jennifer Ivanovich
Sharon Heath
William D Shannon
Rakesh Nagarajan
Matthew J Walter
Daniel C Link
Timothy A Graubert
John F DiPersio
Richard K Wilson
New York Genome Center · USUniversity Hospitals Seidman Cancer Center · USUniversity of Washington · USWashington University in St. Louis · USCancer Research And Biostatistics · US

Funding

SEQUENCING THE HUMAN GENOMEU54HG002042 · NHGRI · WASHINGTON UNIVERSITY · PI WILSON, RICHARD K. · 1999 to 2003
$200.5M
NHGRI NIH HHS U54 HG002042
6 · The paper itself

Abstract

Acute myeloid leukaemia is a highly malignant haematopoietic tumour that affects about 13,000 adults in the United States each year. The treatment of this disease has changed little in the past two decades, because most of the genetic events that initiate the disease remain undiscovered. Whole-genome sequencing is now possible at a reasonable cost and timeframe to use this approach for the unbiased discovery of tumour-specific somatic mutations that alter the protein-coding genes. Here we present the results obtained from sequencing a typical acute myeloid leukaemia genome, and its matched normal counterpart obtained from the same patient's skin. We discovered ten genes with acquired mutations; two were previously described mutations that are thought to contribute to tumour progression, and eight were new mutations present in virtually all tumour cells at presentation and relapse, the function of which is not yet known. Our study establishes whole-genome sequencing as an unbiased method for discovering cancer-initiating mutations in previously unidentified genes that may respond to targeted therapies.

Indexed as

Case-Control StudiesDisease ProgressionGene Expression ProfilingGene Expression Regulation, NeoplasticGenome, HumanGenomicsHumansLeukemia, Myeloid, AcuteMutagenesis, InsertionalMutationPolymorphism, Single NucleotideRecurrenceSequence Analysis, DNASequence DeletionSkin

Identifiers

PMID18987736
PMCPMC2603574
OpenAlexW2153010521

What OpenQuestion holds

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Read underepoch 390

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.