Evidence map›Paper›PMID 24479672›Full record

ReviewGenome medicine2014

Identifying driver mutations in sequenced cancer genomes: computational approaches to enable precision medicine.

Benjamin J Raphael, Jason R Dobson, Layla Oesper, Fabio Vandin

Open access · goldAbstract readReview
In one paragraph

Review in Genome medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 113 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
113citing papers in PubMed, 1 pooled it
9.1field-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

113 citing papers in PubMed, 1 synthesis or guideline pooled it, 232 citations in OpenAlex.

  1. Pooled it
  2. Trial
  3. Article
  4. Article
  5. Article
  6. Transcriptome-wide root causal inference.PLoS computational biology · 2025
    Article
  7. Review
  8. Review
  9. Article
  10. Quantifying Metagenomic Strain Associations from Microbiomes with Anpan.bioRxiv : the preprint server for biology · 2025
    Article
  11. Review
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Review
  19. Review
  20. Article

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

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

4 authors at 1 institution in 1 country.

Benjamin J RaphaelDepartment of Computer Science, Brown University, 115 Waterman Street, Providence, RI 02912, USA ; Center for Computational Molecular Biology, Brown University, 115 Waterman Street, Providence, RI 02912, USA.
Jason R DobsonDepartment of Computer Science, Brown University, 115 Waterman Street, Providence, RI 02912, USA ; Center for Computational Molecular Biology, Brown University, 115 Waterman Street, Providence, RI 02912, USA ; Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, 185 Meeting Street, Providence, RI 02912, USA.
Layla OesperDepartment of Computer Science, Brown University, 115 Waterman Street, Providence, RI 02912, USA.
Fabio VandinDepartment of Computer Science, Brown University, 115 Waterman Street, Providence, RI 02912, USA ; Center for Computational Molecular Biology, Brown University, 115 Waterman Street, Providence, RI 02912, USA.
Brown University · US

Funding

Computational Approaches for Structural Variation Studies in GenomesR01HG005690 · NHGRI · BROWN UNIVERSITY · PI RAPHAEL, BENJAMIN · 2011 to 2015
$2.4M
Analytical Approaches to Massive Data Computation with Applications to GenomicsR01CA180776 · NCI · BROWN UNIVERSITY · PI RAPHAEL, BENJAMIN, UPFAL, ELIEZER · 2013 to 2016
$283k
NCI NIH HHS R01 CA180776NHGRI NIH HHS R01 HG005690
6 · The paper itself

Abstract

High-throughput DNA sequencing is revolutionizing the study of cancer and enabling the measurement of the somatic mutations that drive cancer development. However, the resulting sequencing datasets are large and complex, obscuring the clinically important mutations in a background of errors, noise, and random mutations. Here, we review computational approaches to identify somatic mutations in cancer genome sequences and to distinguish the driver mutations that are responsible for cancer from random, passenger mutations. First, we describe approaches to detect somatic mutations from high-throughput DNA sequencing data, particularly for tumor samples that comprise heterogeneous populations of cells. Next, we review computational approaches that aim to predict driver mutations according to their frequency of occurrence in a cohort of samples, or according to their predicted functional impact on protein sequence or structure. Finally, we review techniques to identify recurrent combinations of somatic mutations, including approaches that examine mutations in known pathways or protein-interaction networks, as well as de novo approaches that identify combinations of mutations according to statistical patterns of mutual exclusivity. These techniques, coupled with advances in high-throughput DNA sequencing, are enabling precision medicine approaches to the diagnosis and treatment of cancer.

Identifiers

PMID24479672
PMCPMC3978567
OpenAlexW2134508297

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.