Evidence map›Paper›PMID 36344967›Full record

ArticleBMC biology2022

A haplotype-resolved genome assembly of the Nile rat facilitates exploration of the genetic basis of diabetes.

Huishi Toh, Chentao Yang, Giulio Formenti, Kalpana Raja, Lily Yan, Alan Tracey, William Chow, Kerstin Howe, Lucie A Bergeron, Guojie Zhang and 19 more

Open access · goldAbstract read
In one paragraph

Article in BMC biology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
2.0field-weighted citation impact, top 13% 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

12 citing papers in PubMed, 25 citations in OpenAlex.

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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

29 authors at 13 institutions in 5 countries.

Huishi TohNeuroscience Research Institute, University of California Santa Barbara, Santa Barbara, CA, 93117, USA.
Chentao YangBGI-Shenzhen, Shenzhen, 518083, China.
Giulio FormentiLaboratory of Neurogenetics of Language, The Rockefeller University/HHMI, New York, NY, USA.
Kalpana RajaBioinformatics and Regenerative Biology, Morgridge Institute for Research, Madison, WI, USA.
Lily YanDepartment of Psychology & Neuroscience Program, Michigan State University, East Lansing, MI, USA.
Alan TraceyTree of Life, Wellcome Sanger Institute, Cambridge, CB10 1SA, UK.
William ChowTree of Life, Wellcome Sanger Institute, Cambridge, CB10 1SA, UK.
Kerstin HoweTree of Life, Wellcome Sanger Institute, Cambridge, CB10 1SA, UK.
Lucie A BergeronVillum Centre for Biodiversity Genomics, Section for Ecology and Evolution, Department of Biology, University of Copenhagen, DK-2100, Copenhagen, Denmark.
Guojie ZhangBGI-Shenzhen, Shenzhen, 518083, China.
Bettina HaaseVertebrate Genome Lab, The Rockefeller University, New York, NY, USA.
Jacquelyn MountcastleVertebrate Genome Lab, The Rockefeller University, New York, NY, USA.
Olivier FedrigoVertebrate Genome Lab, The Rockefeller University, New York, NY, USA.
John FoggDepartment of Statistics, University of Wisconsin - Madison, Madison, WI, USA.
Bogdan KirilenkoLOEWE Centre for Translational Biodiversity Genomics, Senckenberganlage 25, 60325, Frankfurt, Germany.
Chetan MunegowdaLOEWE Centre for Translational Biodiversity Genomics, Senckenberganlage 25, 60325, Frankfurt, Germany.
Michael HillerLOEWE Centre for Translational Biodiversity Genomics, Senckenberganlage 25, 60325, Frankfurt, Germany.
Aashish JainDepartment of Computer Science, Purdue University, West Lafayette, IN, USA.
Daisuke KiharaDepartment of Computer Science, Purdue University, West Lafayette, IN, USA.
Arang RhieGenome Informatics Section, National Human Genome Research Institute, Bethesda, MD, USA.
Adam M PhillippyGenome Informatics Section, National Human Genome Research Institute, Bethesda, MD, USA.
Scott A SwansonBioinformatics and Regenerative Biology, Morgridge Institute for Research, Madison, WI, USA.
Peng JiangCenter for Gene Regulation in Health and Disease (GRHD), Cleveland State University, Cleveland, OH, USA.
Dennis O CleggCenter for Stem Cell Biology and Engineering, Neuroscience Research Institute, Mail Code 5060, University of California, Santa Barbara, CA, 93016, USA.
Erich D JarvisThe Rockefeller University, Box 54, 1230 York Avenue, New York, NY, 10065, USA.
James A ThomsonDepartment of Molecular, Cellular and Developmental Biology, University of California Santa Barbara, Santa Barbara, CA, 93106, USA. jthomson@morgridge.org.
Ron StewartBioinformatics and Regenerative Biology, Morgridge Institute for Research, Madison, WI, USA. rstewart@morgridge.org.
Mark J P ChaissonDepartment of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA. mchaisso@usc.edu.
Yury V BukhmanBioinformatics and Regenerative Biology, Morgridge Institute for Research, Madison, WI, USA. ybukhman@morgridge.org.ORCID http://orcid.org/0000-0002-8111-7651
Rockefeller University · USMorgridge Institute for Research · USGoethe University Frankfurt · DEUniversity of California, Santa Barbara · USWellcome Sanger Institute · GBBGI Group (China) · CNNational Human Genome Research Institute · USPurdue University West Lafayette · USCleveland State University · USMichigan State University · USUniversity of Copenhagen · DKUniversity of Southern California · USUniversity of Wisconsin–Madison · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe Nile rat (Avicanthis niloticus) is an important animal model because of its robust diurnal rhythm, a cone-rich retina, and a propensity to develop diet-induced diabetes without chemical or genetic modifications. A closer similarity to humans in these aspects, compared to the widely used Mus musculus and Rattus norvegicus models, holds the promise of better translation of research findings to the clinic.

resultsWe report a 2.5 Gb, chromosome-level reference genome assembly with fully resolved parental haplotypes, generated with the Vertebrate Genomes Project (VGP). The assembly is highly contiguous, with contig N50 of 11.1 Mb, scaffold N50 of 83 Mb, and 95.2% of the sequence assigned to chromosomes. We used a novel workflow to identify 3613 segmental duplications and quantify duplicated genes. Comparative analyses revealed unique genomic features of the Nile rat, including some that affect genes associated with type 2 diabetes and metabolic dysfunctions. We discuss 14 genes that are heterozygous in the Nile rat or highly diverged from the house mouse.

conclusionsOur findings reflect the exceptional level of genomic resolution present in this assembly, which will greatly expand the potential of the Nile rat as a model organism.

Indexed as

Diabetes Mellitus, Type 2AnimalsGenomeGenomicsHaplotypesHumansMurinaeArvicanthis niloticusDiabetesDiurnalGenomeGermline mutation rateHeterozygosityLong-read genome assemblyOrthologyPositive selectionRetrogenesSegmental duplications

Identifiers

PMID36344967
PMCPMC9641963
OpenAlexW4308381485

What Socratic holds

Textmetadata
LicenceCC BY
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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.