Evidence map›Paper›PMID 36945442›Full record

ArticlebioRxiv : the preprint server for biology2023

Structurally divergent and recurrently mutated regions of primate genomes.

Yafei Mao, William T Harvey, David Porubsky, Katherine M Munson, Kendra Hoekzema, Alexandra P Lewis, Peter A Audano, Allison Rozanski, Xiangyu Yang, Shilong Zhang and 17 more

Open access · greenAbstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed, 14 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

27 authors at 9 institutions in 2 countries.

Yafei MaoDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
William T HarveyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
David PorubskyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Katherine M MunsonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Kendra HoekzemaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Alexandra P LewisDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Peter A AudanoDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Allison RozanskiDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Xiangyu YangBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai, China.
Shilong ZhangBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai, China.
David S GordonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Xiaoxi WeiBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai, China.
Glennis A LogsdonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Marina HauknessUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.
Philip C DishuckDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Hyeonsoo JeongDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Ricardo Del RosarioMcGovern Institute for Brain Research, Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, MA, USA.
Vanessa L BauerBioFrontiers Institute, Department of Molecular, Cellular, and Developmental Biology, University of Colorado, Boulder, CO, USA.
Will T FattorBioFrontiers Institute, Department of Molecular, Cellular, and Developmental Biology, University of Colorado, Boulder, CO, USA.
Gregory K WilkersonDepartment of Veterinary Sciences, Michale E. Keeling Center for Comparative Medicine and Research, The University of Texas MD Anderson Cancer Center, Bastrop, TX, USA.
Qing LuBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai, China.
Benedict PatenUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.
Guoping FengMcGovern Institute for Brain Research, Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, MA, USA.
Sara L SawyerBioFrontiers Institute, Department of Molecular, Cellular, and Developmental Biology, University of Colorado, Boulder, CO, USA.
Wesley C WarrenDepartment of Animal Sciences, Bond Life Sciences Center, University of Missouri, Columbia, MO, USA.
Lucia CarboneDepartment of Medicine, Knight Cardiovascular Institute, Oregon Health and Science University, Portland, OR, USA.
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
University of Washington · USShanghai Jiao Tong University · CNUniversity of Colorado Boulder · USBroad Institute · USHoward Hughes Medical Institute · USUniversity of California, Santa Cruz · USOregon National Primate Research Center · USThe University of Texas MD Anderson Cancer Center · USUniversity of Missouri · US

Funding

Upgrade of confocal microscopy at the Oregon National Primate Research CenterP51OD011092 · OD · OREGON HEALTH & SCIENCE UNIVERSITY · PI Bonnie J. Nagel · 2012 to 2026
$203.9M
The WashU-UCSC-EBI Human Genome Reference Center."U41HG010972 · NHGRI · WASHINGTON UNIVERSITY · PI Ting Wang · 2019 to 2026
$24.9M
Sequence and Assembly of Segmental DuplicationsR01HG002385 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2001 to 2026
$13.3M
Improving detection and interpretation of clinically relevant structural variationU24HG009081 · NHGRI · WASHINGTON UNIVERSITY · PI EICHLER, EVAN, FULTON, ROBERT SCOTT · 2016 to 2018
$6.8M
Sequence-resolved structural variation of human genomesR01HG010169 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2018 to 2026
$4.5M
Hunting the HIV-1 UnicornDP1DA046108 · NIDA · UNIVERSITY OF COLORADO · PI SAWYER, SARA · 2018 to 2022
$4.5M
The construction and utility of reference pan-genome graphsU01HG010961 · NHGRI · DANA-FARBER CANCER INST · PI LI, HENG, PATEN, BENEDICT · 2020 to 2023
$3.2M
Enabling Comparative PangenomicsR01HG010485 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI HAUSSLER, DAVID H, MARTIN, FERGAL JAMES · 2020 to 2023
$2.6M
Host genetic barriers to virus spilloverR01AI137011 · NIAID · UNIVERSITY OF COLORADO · PI SAWYER, SARA · 2018 to 2022
$2.1M
Human centromere variation and functionR00GM147352 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI Glennis Amelia Logsdon · 2024 to 2026
$747k
Human centromere variation and functionK99GM147352 · NIGMS · UNIVERSITY OF WASHINGTON · PI LOGSDON, GLENNIS AMELIA · 2022 to 2022
$100k
NHGRI NIH HHS R01 HG002385NHGRI NIH HHS R01 HG010169NHGRI NIH HHS R01 HG010485NHGRI NIH HHS U01 HG010961NHGRI NIH HHS U24 HG009081NHGRI NIH HHS U41 HG010972NIAID NIH HHS R01 AI137011NIDA NIH HHS DP1 DA046108NIGMS NIH HHS K99 GM147352NIGMS NIH HHS R00 GM147352NIH HHS P51 OD011092
6 · The paper itself

Abstract

To better understand the pattern of primate genome structural variation, we sequenced and assembled using multiple long-read sequencing technologies the genomes of eight nonhuman primate species, including New World monkeys (owl monkey and marmoset), Old World monkey (macaque), Asian apes (orangutan and gibbon), and African ape lineages (gorilla, bonobo, and chimpanzee). Compared to the human genome, we identified 1,338,997 lineage-specific fixed structural variants (SVs) disrupting 1,561 protein-coding genes and 136,932 regulatory elements, including the most complete set of human-specific fixed differences. Across 50 million years of primate evolution, we estimate that 819.47 Mbp or ~27% of the genome has been affected by SVs based on analysis of these primate lineages. We identify 1,607 structurally divergent regions (SDRs) wherein recurrent structural variation contributes to creating SV hotspots where genes are recurrently lost (

Identifiers

PMID36945442
PMCPMC10028934
OpenAlexW4323565938

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.