Evidence map›Paper›PMID 28580430›Full record

ArticleNature ecology & evolution2017

The evolution and population diversity of human-specific segmental duplications.

Megan Y Dennis, Lana Harshman, Bradley J Nelson, Osnat Penn, Stuart Cantsilieris, John Huddleston, Francesca Antonacci, Kelsi Penewit, Laura Denman, Archana Raja and 11 more

Open access · bronzeAbstract read
In one paragraph

Article in Nature ecology & evolution, 2017. 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
18.3field-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.

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, 178 citations in OpenAlex.

  1. Article
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  4. Influence ofGenome research · 2026
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  9. The diploid reference genome of a human embryonic stem cell line.bioRxiv : the preprint server for biology · 2026
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  11. Influence ofbioRxiv : the preprint server for biology · 2025
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  12. Article
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  14. Reduced Adult Neurogenesis in Humans Results From a Tradeoff Rather Than Direct Negative Selection.BioEssays : news and reviews in molecular, cellular and developmental biology · 2025
    Review
  15. Human-specific gene expansions contribute to brain evolution.bioRxiv : the preprint server for biology · 2025
    Article
  16. Article
  17. Review
  18. The Evolutionary Potential of Chromoanagenesis.Methods in molecular biology (Clifton, N.J.) · 2025
    Article
  19. Article
  20. Review

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

21 authors at 4 institutions in 2 countries.

Megan Y DennisGenome Center, MIND Institute, and Department of Biochemistry & Molecular Medicine, University of California, Davis, CA 95616, USA.
Lana HarshmanDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Bradley J NelsonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Osnat PennDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Stuart CantsilierisDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
John HuddlestonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Francesca AntonacciDipartimento di Biologia, Università degli Studi di Bari "Aldo Moro", Bari 70125, Italy.
Kelsi PenewitDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Laura DenmanDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Archana RajaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Carl BakerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Kenneth MarkDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Maika MaligDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Nicolette JankeDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Claudia EspinozaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Holly A F StessmanDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Xander NuttleDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Kendra HoekzemaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Tina A Lindsay-GravesMcDonnell Genome Institute at Washington University, Washington University School of Medicine, St. Louis, MO 63108, USA.
Richard K WilsonMcDonnell Genome Institute at Washington University, Washington University School of Medicine, St. Louis, MO 63108, USA.
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
University of Washington · USHoward Hughes Medical Institute · USWashington University in St. Louis · USUniversity of Bari Aldo Moro · IT

Funding

Sequence and Assembly of Segmental DuplicationsR01HG002385 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2001 to 2026
$13.3M
Improving the Human Reference Genome ResourceU41HG007635 · NHGRI · WASHINGTON UNIVERSITY · PI WILSON, RICHARD K. · 2014 to 2017
$9.6M
Sporadic Mutations and Autism Spectrum DisordersR01MH101221 · NIMH · UNIVERSITY OF WASHINGTON · PI EICHLER, EVAN · 2013 to 2025
$9.2M
Rodent Behavior CoreU54HD079125 · NICHD · UNIVERSITY OF CALIFORNIA AT DAVIS · PI VAN DE WATER, JUDY A. · 2013 to 2019
$8.5M
TRAINING PROGRAM IN REPRODUCTIVE &DEVELOPMENTAL BIOLOGYT32HD007396 · NICHD · MASSACHUSETTS GENERAL HOSPITAL · PI CROWLEY, WILLIAM FRANCIS · 1991 to 2018
$2.5M
Diversity Action Plan: UW GenOM ProjectR25HG007153 · NHGRI · UNIVERSITY OF WASHINGTON · PI EICHLER, EVAN · 2013 to 2020
$2.3M
Characterization of Human-Specific Duplicated Genes Implicated in NeurocognitiveR00NS083627 · NINDS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI DENNIS, MEGAN Y · 2016 to 2018
$727k
Howard Hughes Medical InstituteNHGRI NIH HHS R01 HG002385NHGRI NIH HHS R25 HG007153NHGRI NIH HHS U41 HG007635NICHD NIH HHS T32 HD007396NICHD NIH HHS U54 HD079125NIMH NIH HHS R01 MH101221NINDS NIH HHS R00 NS083627
6 · The paper itself

Abstract

Segmental duplications contribute to human evolution, adaptation and genomic instability but are often poorly characterized. We investigate the evolution, genetic variation and coding potential of human-specific segmental duplications (HSDs). We identify 218 HSDs based on analysis of 322 deeply sequenced archaic and contemporary hominid genomes. We sequence 550 human and nonhuman primate genomic clones to reconstruct the evolution of the largest, most complex regions with protein-coding potential (n=80 genes/33 gene families). We show that HSDs are non-randomly organized, associate preferentially with ancestral ape duplications termed "core duplicons", and evolved primarily in an interspersed inverted orientation. In addition to

Identifiers

PMID28580430
PMCPMC5450946
OpenAlexW2587990010

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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.