Evidence map›Paper›PMID 29345757›Full record

ReviewCancer science2018

Whole genome sequencing analysis for cancer genomics and precision medicine.

Hidewaki Nakagawa, Masashi Fujita

Registry-linked trialOpen access · goldAbstract readReview
In one paragraph

Review in Cancer science, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05142033 (Implementation of Comprehensive Molecular Profiling and Deep Clinical Annotation of Electronic Health Records in Participants Diagnosed With or at Risk of Developing Cancer), which is not on this map. Cited by 195 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
195citing papers in PubMed, 2 pooled it
13.3field-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.

NCT05142033 recruitingnot on this mapstarted 2021, after this paper: background citation

Implementation of Comprehensive Molecular Profiling and Deep Clinical Annotation of Electronic Health Records in Participants Diagnosed With or at Risk of Developing Cancer (ASAP Study)

TypeobservationalSponsorAvera McKennan Hospital & University Health CenterRan2021 to 2026Enrolled25,000ConditionsCancer, Cancer Diagnosis, Early Detection of Cancer, Breast Cancer
3 · Its place in the literature

Who cites it

195 citing papers in PubMed, 2 syntheses or guidelines pooled it, 383 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Review
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  9. Gene fusions in melanocytic lesions: an updated comprehensive review.Journal of pathology and translational medicine · 2026
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  13. Molecular switch-mediated detection ofBioengineering & translational medicine · 2026
    Article
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  15. Biochemistry and biophysics reports · 2025
    Article
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135 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

2 authors at 1 institution in 1 country.

Hidewaki NakagawaLaboratory for Genome Sequencing Analysis, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.ORCID http://orcid.org/0000-0003-1807-772X
Masashi FujitaLaboratory for Genome Sequencing Analysis, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
RIKEN Center for Integrative Medical Sciences · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Explosive advances in next-generation sequencer (NGS) and computational analyses have enabled exploration of somatic protein-altered mutations in most cancer types, with coding mutation data intensively accumulated. However, there is limited information on somatic mutations in non-coding regions, including introns, regulatory elements and non-coding RNA. Structural variants and pathogen in cancer genomes remain widely unexplored. Whole genome sequencing (WGS) approaches can be used to comprehensively explore all types of genomic alterations in cancer and help us to better understand the whole landscape of driver mutations and mutational signatures in cancer genomes and elucidate the functional or clinical implications of these unexplored genomic regions and mutational signatures. This review describes recently developed technical approaches for cancer WGS and the future direction of cancer WGS, and discusses its utility and limitations as an analysis platform and for mutation interpretation for cancer genomics and cancer precision medicine. Taking into account the diversity of cancer genomes and phenotypes, interpretation of abundant mutation information from WGS, especially non-coding and structure variants, requires the analysis of large-scale WGS data integrated with RNA-Seq, epigenomics, immuno-genomic and clinic-pathological information.

Indexed as

EpigenomicsGenetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumansMutationNeoplasmsPrecision MedicineSequence Analysis, RNAWhole Genome Sequencingcancer genomemutational signaturenon-coding mutationstructural variantwhole genome sequencing

Identifiers

PMID29345757
PMCPMC5834793
OpenAlexW2794135466

What OpenQuestion holds

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LicenceCC BY-NC
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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.