Evidence map›Paper›PMID 29731376›Full record

ReviewTrends in genetics : TIG2018

Detecting Somatic Mutations in Normal Cells.

Yanmei Dou, Heather D Gold, Lovelace J Luquette, Peter J Park

Abstract readReview
In one paragraph

Review in Trends in genetics : TIG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 85 papers.

0numbers the graph read from it
0cells of the map it votes in
85citing 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

85 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. Article
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  6. Article
  7. Review
  8. Review
  9. Article
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  11. Article
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  14. Article
  15. Mosaic of somatic mutations in one of Earth's largest organisms, Pando.bioRxiv : the preprint server for biology · 2025
    Article
  16. Article
  17. Review
  18. Article
  19. Mapping assays to the key characteristics of carcinogens to support decision-making.Database : the journal of biological databases and curation · 2025
    Article
  20. Review

25 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.

Yanmei DouDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA; Equal contributions.
Heather D GoldDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA; Bioinformatics and Integrative Genomics PhD Program, Harvard Medical School, Boston, MA, USA; Equal contributions.
Lovelace J LuquetteDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA; Bioinformatics and Integrative Genomics PhD Program, Harvard Medical School, Boston, MA, USA; Equal contributions.
Peter J ParkDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA; Division of Genetics, Brigham and Women's Hospital, Boston, MA, USA. Electronic address: peter_park@hms.harvard.edu.

Funding

RESEARCH TRAINING-MEDICAL INFORMATICS 90T15LM007092 · NLM · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI Nils Gehlenborg · 1992 to 2026
$32.8M
Training Program in Bioinformatics and Integrative GenomicsT32HG002295 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI Peter J Park · 2001 to 2026
$15.8M
Cell Identity Determination In Human Brain: Somatic Mutation and Cell LineageR01NS032457 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI Alice Eunjung Lee, Christopher A. Walsh · 1995 to 2026
$12.7M
1/2-Somatic mosaicism and autism spectrum disorderU01MH106883 · NIMH · BOSTON CHILDREN'S HOSPITAL · PI PARK, PETER J, WALSH, CHRISTOPHER A. · 2015 to 2019
$9.2M
Somatic Mosaicism in Schizophrenia and Control BrainsU01MH106891 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI AKBARIAN, SCHAHRAM, CHESS, ANDREW J · 2015 to 2019
$7.3M
NHGRI NIH HHS T32 HG002295NIMH NIH HHS U01 MH106883NIMH NIH HHS U01 MH106891NINDS NIH HHS R01 NS032457NLM NIH HHS T15 LM007092
6 · The paper itself

Abstract

Somatic mutations have been studied extensively in the context of cancer. Recent studies have demonstrated that high-throughput sequencing data can be used to detect somatic mutations in non-tumor cells. Analysis of such mutations allows us to better understand the mutational processes in normal cells, explore cell lineages in development, and examine potential associations with age-related disease. We describe here approaches for characterizing somatic mutations in normal and non-tumor disease tissues. We discuss several experimental designs and common pitfalls in somatic mutation detection, as well as more recent developments such as phasing and linked-read technology. With the dramatically increasing numbers of samples undergoing genome sequencing, bioinformatic analysis will enable the characterization of somatic mutations and their impact on non-cancer tissues.

Indexed as

AnimalsComputational BiologyHigh-Throughput Nucleotide SequencingHumansMutationNeoplasmscell lineagelinked readsmosaicismphasingsingle-nucleotide variants

Identifiers

PMID29731376
PMCPMC6029698

What OpenQuestion holds

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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.