Evidence map›Paper›PMID 31653862›Full record

ArticleNature communications2019

Structural variants exhibit widespread allelic heterogeneity and shape variation in complex traits.

Mahul Chakraborty, J J Emerson, Stuart J Macdonald, Anthony D Long

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 125 papers.

0numbers the graph read from it
0cells of the map it votes in
125citing papers in PubMed
8.3field-weighted citation impact, top 2% 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.

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

125 citing papers in PubMed, 195 citations in OpenAlex.

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  17. Polymorphic 3D genome architecture mediated by transposable elements.bioRxiv : the preprint server for biology · 2026
    Article
  18. Review
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65 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 at 2 institutions in 1 country.

Mahul ChakrabortyDepartment of Ecology and Evolutionary Biology, University of California Irvine, Irvine, CA, 92697, USA. mchakrab@uci.edu.ORCID http://orcid.org/0000-0003-2414-9187
J J EmersonDepartment of Ecology and Evolutionary Biology, University of California Irvine, Irvine, CA, 92697, USA.ORCID http://orcid.org/0000-0001-9474-0891
Stuart J MacdonaldDepartment of Molecular Biosciences, University of Kansas, Lawrence, KS, 66045, USA.ORCID http://orcid.org/0000-0002-9421-002X
Anthony D LongDepartment of Ecology and Evolutionary Biology, University of California Irvine, Irvine, CA, 92697, USA. tdlong@uci.edu.ORCID http://orcid.org/0000-0002-5007-8514
University of California, Irvine · USUniversity of Kansas · US

Funding

Univ.of Calif., Irvine Cancer Center Support GrantP30CA062203 · NCI · UNIVERSITY OF CALIFORNIA-IRVINE · PI Christine Hui · 1994 to 2026
$57.9M
A resource for the genetic analysis of complex traitsR01OD010974 · OD · UNIVERSITY OF KANSAS LAWRENCE · PI LONG, ANTHONY DOUGLAS, MACDONALD, STUART JOHN · 2012 to 2019
$3.1M
Elucidating Mechanisms of Adaptive Change Using Outbred Recombining YeastR01GM115562 · NIGMS · UNIVERSITY OF CALIFORNIA-IRVINE · PI LONG, ANTHONY DOUGLAS · 2015 to 2018
$1.6M
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
Evolutionary and functional consequences of structural genetic variation in DrosophilaK99GM129411 · NIGMS · UNIVERSITY OF CALIFORNIA-IRVINE · PI CHAKRABORTY, MAHUL · 2019 to 2021
$145k
NCI NIH HHS P30 CA062203NCRR NIH HHS S10 RR025496NIGMS NIH HHS K99 GM129411NIGMS NIH HHS R01 GM115562NIGMS NIH HHS R01 GM123303NIH HHS R01 OD010974NIH HHS S10 OD010794NIH HHS S10 OD021718
6 · The paper itself

Abstract

It has been hypothesized that individually-rare hidden structural variants (SVs) could account for a significant fraction of variation in complex traits. Here we identified more than 20,000 euchromatic SVs from 14 Drosophila melanogaster genome assemblies, of which ~40% are invisible to high specificity short-read genotyping approaches. SVs are common, with 31.5% of diploid individuals harboring a SV in genes larger than 5kb, and 24% harboring multiple SVs in genes larger than 10kb. SV minor allele frequencies are rarer than amino acid polymorphisms, suggesting that SVs are more deleterious. We show that a number of functionally important genes harbor previously hidden structural variants likely to affect complex phenotypes. Furthermore, SVs are overrepresented in candidate genes associated with quantitative trait loci mapped using the Drosophila Synthetic Population Resource. We conclude that SVs are ubiquitous, frequently constitute a heterogeneous allelic series, and can act as rare alleles of large effect.

Indexed as

AnimalsDrosophila melanogasterEuchromatinFemaleGene Expression ProfilingGene FrequencyGenomic Structural VariationPhenotypeQuantitative Trait LociEuchromatin

Identifiers

PMID31653862
PMCPMC6814777
OpenAlexW2982140760

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.