Evidence map›Paper›PMID 29255259›Full record

ArticleNature genetics2018

Hidden genetic variation shapes the structure of functional elements in Drosophila.

Mahul Chakraborty, Nicholas W VanKuren, Roy Zhao, Xinwen Zhang, Shannon Kalsow, J J Emerson

Abstract read
In one paragraph

Article in Nature genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 94 papers.

0numbers the graph read from it
0cells of the map it votes in
94citing 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

94 citing papers in PubMed.

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  12. Dichotomous transcriptome divergence at the cell-type level between thebioRxiv : the preprint server for biology · 2025
    Article
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  16. Article
  17. Dynamic Changes in Gene Expression Through Aging inbioRxiv : the preprint server for biology · 2024
    Article
  18. Article
  19. Article
  20. Article

34 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

6 authors.

Mahul ChakrabortyDepartment of Ecology and Evolutionary Biology, University of California, Irvine, CA, USA. mchakrab@uci.edu.ORCID http://orcid.org/0000-0003-2414-9187
Nicholas W VanKurenDepartment of Ecology and Evolution, University of Chicago, Chicago, IL, USA.
Roy ZhaoGraduate Program in Mathematical, Computational and Systems Biology, University of California, Irvine, CA, USA.
Xinwen ZhangDepartment of Ecology and Evolutionary Biology, University of California, Irvine, CA, USA.
Shannon KalsowDepartment of Ecology and Evolutionary Biology, University of California, Irvine, CA, USA.
J J EmersonDepartment of Ecology and Evolutionary Biology, University of California, Irvine, CA, USA. jje@uci.edu.ORCID http://orcid.org/0000-0001-9474-0891

Funding

Univ.of Calif., Irvine Cancer Center Support GrantP30CA062203 · NCI · UNIVERSITY OF CALIFORNIA-IRVINE · PI Christine Hui · 1994 to 2026
$57.9M
PREDOCTORAL TRAINING IN GENETICS AND REGULATIONT32GM007197 · NIGMS · UNIVERSITY OF CHICAGO · PI ROTHMAN-DENES, LUCIA B. B · 1985 to 2020
$17.0M
Mathematical, Computational and Systems BiologyT32EB009418 · NIBIB · UNIVERSITY OF CALIFORNIA-IRVINE · PI LANDER, ARTHUR D, NIE, QING · 2009 to 2019
$2.4M
Structural variation population size and the evolution of genome complexityR01GM123303 · NIGMS · UNIVERSITY OF CALIFORNIA-IRVINE · PI EMERSON, JAMES JORDAN · 2017 to 2021
$1.5M
High-Throughput DNA SequencerS10OD021718 · OD · UNIVERSITY OF CALIFORNIA-IRVINE · PI SANDMEYER, SUZANNE · 2016 to 2016
$600k
PacBio RS Single Molecule, Real-Time (SMRT) DNA SequencerS10OD010794 · OD · UNIVERSITY OF CALIFORNIA-IRVINE · PI SANDMEYER, SUZANNE · 2012 to 2012
$600k
High Throughput DNA SequencerS10RR025496 · NCRR · UNIVERSITY OF CALIFORNIA-IRVINE · PI SANDMEYER, SUZANNE · 2009 to 2009
$500k
NCI NIH HHS P30 CA062203NCRR NIH HHS S10 RR025496NIBIB NIH HHS T32 EB009418NIGMS NIH HHS R01 GM123303NIGMS NIH HHS T32 GM007197NIH HHS S10 OD010794NIH HHS S10 OD021718
6 · The paper itself

Abstract

Mutations that add, subtract, rearrange, or otherwise refashion genome structure often affect phenotypes, although the fragmented nature of most contemporary assemblies obscures them. To discover such mutations, we assembled the first new reference-quality genome of Drosophila melanogaster since its initial sequencing. By comparing this new genome to the existing D. melanogaster assembly, we created a structural variant map of unprecedented resolution and identified extensive genetic variation that has remained hidden until now. Many of these variants constitute candidates underlying phenotypic variation, including tandem duplications and a transposable element insertion that amplifies the expression of detoxification-related genes associated with nicotine resistance. The abundance of important genetic variation that still evades discovery highlights how crucial high-quality reference genomes are to deciphering phenotypes.

Indexed as

Genetic VariationAnimalsDNA Copy Number VariationsDrosophila melanogasterINDEL MutationPhenotypePolymorphism, Single Nucleotide

Identifiers

PMID29255259
PMCPMC5742068

What OpenQuestion holds

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Registered trials

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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.