Evidence map›Paper›PMID 30797597›Full record

ReviewTrends in genetics : TIG2019

Substitutions Are Boring: Some Arguments about Parallel Mutations and High Mutation Rates.

Maximilian Oliver Press, Ashley N Hall, Elizabeth A Morton, Christine Queitsch

Abstract readReview
In one paragraph

Review in Trends in genetics : TIG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.

0numbers the graph read from it
0cells of the map it votes in
25citing 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

25 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
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  11. Under the magnifying glass: The ups and downs of rDNA copy number.Seminars in cell & developmental biology · 2023
    Review
  12. Review
  13. Article
  14. Article
  15. Article
  16. Article
  17. Genetic basis of speciation and adaptation: from loci to causative mutations.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2022
    Article
  18. Article
  19. Article
  20. Article
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.

Maximilian Oliver PressPhase Genomics Inc., Seattle, WA 98195, USA. Electronic address: maximilianpress5@gmail.com.
Ashley N HallDepartment of Genome Sciences, University of Washington, Seattle, WA 91895, USA; Department of Molecular and Cellular Biology, University of Washington, Seattle, WA 91895, USA.
Elizabeth A MortonDepartment of Genome Sciences, University of Washington, Seattle, WA 91895, USA.
Christine QueitschDepartment of Genome Sciences, University of Washington, Seattle, WA 91895, USA. Electronic address: queitsch@uw.edu.

Funding

TRAINING IN MOLECULAR AND CELLULAR BIOLOGYT32GM007270 · NIGMS · UNIVERSITY OF WASHINGTON · PI RAIBLE, DAVID W · 1985 to 2020
$21.0M
Ribosomal DNA copy number variation as a source of missing heritability in complex traitsR01GM122088 · NIGMS · UNIVERSITY OF WASHINGTON · PI QUEITSCH, CHRISTINE · 2017 to 2019
$1.4M
Ribosomal DNA copy number as a molecular determinant of wellness and life spanR21AG052020 · NIA · UNIVERSITY OF WASHINGTON · PI QUEITSCH, CHRISTINE · 2016 to 2017
$425k
NIA NIH HHS R21 AG052020NIGMS NIH HHS R01 GM122088NIGMS NIH HHS T32 GM007270
6 · The paper itself

Abstract

Extant genomes are largely shaped by global transposition, copy-number fluctuation, and rearrangement of DNA sequences rather than by substitutions of single nucleotides. Although many of these large-scale mutations have low probabilities and are unlikely to repeat, others are recurrent or predictable in their effects, leading to stereotyped genome architectures and genetic variation in both eukaryotes and prokaryotes. Such recurrent, parallel mutation modes can profoundly shape the paths taken by evolution and undermine common models of evolutionary genetics. Similar patterns are also evident at the smaller scales of individual genes or short sequences. The scale and extent of this 'non-substitution' variation has recently come into focus through the advent of new genomic technologies; however, it is still not widely considered in genotype-phenotype association studies. In this review we identify common features of these disparate mutational phenomena and comment on the importance and interpretation of these mutational patterns.

Indexed as

Evolution, MolecularGenomeMutationMutation RateAnimalsDNA, RibosomalDNA Transposable ElementsGenomicsHumansInheritance PatternsMicrosatellite RepeatsModels, GeneticPlantsPolymorphism, Single NucleotideProkaryotic CellsDNA, RibosomalDNA Transposable Elementsmutationparallel mutationrDNArepetitive DNAshort tandem repeatstransposons

Identifiers

PMID30797597
PMCPMC6435258

What OpenQuestion holds

Textmetadata
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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.