Evidence map›Paper›PMID 33910595›Full record

ArticleGenome biology2021

Complete vertebrate mitogenomes reveal widespread repeats and gene duplications.

Giulio Formenti, Arang Rhie, Jennifer Balacco, Bettina Haase, Jacquelyn Mountcastle, Olivier Fedrigo, Samara Brown, Marco Rosario Capodiferro, Farooq O Al-Ajli, Roberto Ambrosini and 31 more

Open access · goldAbstract read
In one paragraph

Article in Genome biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 84 papers.

0numbers the graph read from it
0cells of the map it votes in
84citing papers in PubMed
10.1field-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

84 citing papers in PubMed, 143 citations in OpenAlex.

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  15. Complete Mitochondrial Genomes ofAnimals : an open access journal from MDPI · 2025
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  20. Analysis of the Entire Mitogenome of the Threatened Freshwater StingrayInternational journal of molecular sciences · 2025
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24 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

41 authors at 14 institutions in 6 countries.

Giulio FormentiThe Vertebrate Genome Lab, Rockefeller University, New York, NY, USA. gformenti@rockefeller.edu.ORCID 0000-0002-7554-5991
Arang RhieGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Jennifer BalaccoThe Vertebrate Genome Lab, Rockefeller University, New York, NY, USA.
Bettina HaaseThe Vertebrate Genome Lab, Rockefeller University, New York, NY, USA.
Jacquelyn MountcastleThe Vertebrate Genome Lab, Rockefeller University, New York, NY, USA.
Olivier FedrigoThe Vertebrate Genome Lab, Rockefeller University, New York, NY, USA.
Samara BrownLaboratory of Neurogenetics of Language, Rockefeller University, New York, NY, USA.
Marco Rosario CapodiferroDepartment of Biology and Biotechnology "L. Spallanzani", University of Pavia, Pavia, Italy.
Farooq O Al-AjliMonash University Malaysia Genomics Facility, School of Science, Bandar Sunway, Selangor Darul Ehsan, Malaysia.
Roberto AmbrosiniDepartment of Environmental Science and Policy, University of Milan, Milan, Italy.
Peter HoudeDepartment of Biology, New Mexico State University, Las Cruces, NM, USA.
Sergey KorenGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Karen OliverWellcome Sanger Institute, Cambridge, UK.
Michelle SmithWellcome Sanger Institute, Cambridge, UK.
Jason SkeltonWellcome Sanger Institute, Cambridge, UK.
Emma BetteridgeWellcome Sanger Institute, Cambridge, UK.
Jale DolucanWellcome Sanger Institute, Cambridge, UK.
Craig CortonWellcome Sanger Institute, Cambridge, UK.
Iliana BistaWellcome Sanger Institute, Cambridge, UK.
James TorranceWellcome Sanger Institute, Cambridge, UK.
Alan TraceyWellcome Sanger Institute, Cambridge, UK.
Jonathan WoodWellcome Sanger Institute, Cambridge, UK.
Marcela Uliano-SilvaWellcome Sanger Institute, Cambridge, UK.
Kerstin HoweWellcome Sanger Institute, Cambridge, UK.
Shane McCarthyWellcome Sanger Institute, Cambridge, UK.
Sylke WinklerMax Planck Institute of Molecular Cell Biology & Genetics, Dresden, Germany.
Woori KwakHoonygen, Seoul, Korea.
Jonas KorlachPacific Biosciences, Menlo Park, CA, USA.
Arkarachai FungtammasanDNAnexus Inc., Mountain View, CA, USA.
Daniel FordhamOxford Nanopore Technologies Ltd, Oxford Science Park, Oxford, UK.
Vania CostaOxford Nanopore Technologies Ltd, Oxford Science Park, Oxford, UK.
Simon MayesOxford Nanopore Technologies Ltd, Oxford Science Park, Oxford, UK.
Matteo ChiaraDepartment of Biosciences, University of Milan, Milan, Italy.
David S HornerDepartment of Biosciences, University of Milan, Milan, Italy.
Eugene MyersMax Planck Institute of Molecular Cell Biology & Genetics, Dresden, Germany.
Richard DurbinWellcome Sanger Institute, Cambridge, UK.
Alessandro AchilliDepartment of Biology and Biotechnology "L. Spallanzani", University of Pavia, Pavia, Italy.
Edward L BraunDepartment of Biology, University of Florida, Gainesville, FL, USA.
Adam M PhillippyGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Erich D JarvisThe Vertebrate Genome Lab, Rockefeller University, New York, NY, USA. ejarvis@rockefeller.edu.
Vertebrate Genomes Project Consortium
Wellcome Sanger Institute · GBRockefeller University · USHoward Hughes Medical Institute · USNational Institutes of Health · USOxford Nanopore Technologies (United Kingdom) · GBUniversity of Cambridge · GBUniversity of Milan · ITMax Planck Institute of Molecular Cell Biology and Genetics · DEUniversity of Pavia · ITDNAnexus (United States) · USMonash University Malaysia · MYNew Mexico State University · USPacific Biosciences (United States) · USUniversity of Florida · US

Funding

Single-molecule sequence assembly and analysisZIAHG200398 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI PHILLIPPY, ADAM · 2016 to 2025
$15.9M
Wellcome Trust 207492/Z/17/ZWellcome Trust WT207492
6 · The paper itself

Abstract

backgroundModern sequencing technologies should make the assembly of the relatively small mitochondrial genomes an easy undertaking. However, few tools exist that address mitochondrial assembly directly.

resultsAs part of the Vertebrate Genomes Project (VGP) we develop mitoVGP, a fully automated pipeline for similarity-based identification of mitochondrial reads and de novo assembly of mitochondrial genomes that incorporates both long (> 10 kbp, PacBio or Nanopore) and short (100-300 bp, Illumina) reads. Our pipeline leads to successful complete mitogenome assemblies of 100 vertebrate species of the VGP. We observe that tissue type and library size selection have considerable impact on mitogenome sequencing and assembly. Comparing our assemblies to purportedly complete reference mitogenomes based on short-read sequencing, we identify errors, missing sequences, and incomplete genes in those references, particularly in repetitive regions. Our assemblies also identify novel gene region duplications. The presence of repeats and duplications in over half of the species herein assembled indicates that their occurrence is a principle of mitochondrial structure rather than an exception, shedding new light on mitochondrial genome evolution and organization.

conclusionsOur results indicate that even in the "simple" case of vertebrate mitogenomes the completeness of many currently available reference sequences can be further improved, and caution should be exercised before claiming the complete assembly of a mitogenome, particularly from short reads alone.

Indexed as

Gene DuplicationGenome, MitochondrialGenomicsRepetitive Sequences, Nucleic AcidAnimalsComputational BiologyEvolution, MolecularHigh-Throughput Nucleotide SequencingVertebratesAssemblyDuplicationsLong readsMitochondrial DNARepeatsSequencingVertebrate

Identifiers

PMID33910595
PMCPMC8082918
OpenAlexW3157679996

What Socratic 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 Socratic graph.