Evidence map›Paper›PMID 29576615›Full record

ReviewNature reviews. Genetics2018

Enhancing the accuracy of next-generation sequencing for detecting rare and subclonal mutations.

Jesse J Salk, Michael W Schmitt, Lawrence A Loeb

Abstract readReview
In one paragraph

Review in Nature reviews. Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 300 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
300citing papers in PubMed, 2 pooled it
–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

300 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Trial
  4. Article
  5. FLT3-Mutated AML: Transplanting with Precision in the Targeted Era.Current hematologic malignancy reports · 2026
    Review
  6. Liquid biopsy in modern medicine: advancing diagnostics from molecular insights to clinical practice.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026
    Review
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240 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

3 authors.

Jesse J SalkDepartment of Pathology, University of Washington School of Medicine, Seattle, WA, USA.
Michael W SchmittDepartment of Pathology, University of Washington School of Medicine, Seattle, WA, USA.
Lawrence A LoebDepartment of Pathology, University of Washington School of Medicine, Seattle, WA, USA.

Funding

Tumor mutation signaturesP01CA077852 · NCI · UNIVERSITY OF WASHINGTON · PI SIDOROVA, JULIA · 1999 to 2019
$26.0M
TRAINING IN CANCER BIOLOGY &TRANSPLANTATIONT32CA009515 · NCI · UNIVERSITY OF WASHINGTON · PI NANCY ELLEN DAVIDSON, Effie W Petersdorf · 1985 to 2026
$16.2M
Mutator Phenotype in Colon CancerR01CA193649 · NCI · UNIVERSITY OF WASHINGTON · PI LOEB, LAWRENCE A · 2016 to 2019
$1.4M
Validation and Advanced Development of Duplex SequencingR33CA181771 · NCI · UNIVERSITY OF WASHINGTON · PI LOEB, LAWRENCE A · 2014 to 2016
$1.1M
NCI NIH HHS P01 CA077852NCI NIH HHS R01 CA193649NCI NIH HHS R33 CA181771NCI NIH HHS T32 CA009515
6 · The paper itself

Abstract

Mutations, the fuel of evolution, are first manifested as rare DNA changes within a population of cells. Although next-generation sequencing (NGS) technologies have revolutionized the study of genomic variation between species and individual organisms, most have limited ability to accurately detect and quantify rare variants among the different genome copies in heterogeneous mixtures of cells or molecules. We describe the technical challenges in characterizing subclonal variants using conventional NGS protocols and the recent development of error correction strategies, both computational and experimental, including consensus sequencing of single DNA molecules. We also highlight major applications for low-frequency mutation detection in science and medicine, describe emerging methodologies and provide our vision for the future of DNA sequencing.

Indexed as

MutationDNA Mutational AnalysisGenomicsHigh-Throughput Nucleotide SequencingHumans

Identifiers

PMID29576615
PMCPMC6485430

What OpenQuestion holds

Textmetadata
LicenceTDM
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.