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Paper · 26432246

An integrated map of structural variation in 2,504 human genomes.

Sudmant PH and 82 others. Nature, 2015. Cited by 1,712 papers, by iCite.

11 sourcespapers-2026-11-12-0.1.0

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ConductScience Library. An integrated map of structural variation in 2,504 human genomes. Papers, record 26432246. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/26432246

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Paper

PubMed's record of the paper, with iCite's citation figures. No abstract is shown.

Title
An integrated map of structural variation in 2,504 human genomes.
PubMed
Journal
Nature
PubMed
Year
2015
PubMed
Publication types
Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't
PubMed
Citations, by iCite
1,712
iCite
Relative citation ratio, by iCite
49.5
iCite
Revised in PubMed
2026-11-02
PubMed

Authors83

The authors in the order PubMed's record lists them, with the ORCID iDs it states.

OrderAuthorForenameKindORCID iD
1Sudmant PHPeter H
2Rausch TTobias
3Gardner EJEugene J
4Handsaker RERobert E
5Abyzov AAlexej
6Huddleston JJohn
7Zhang YYan
8Ye KKai
9Jun GGoo
10Fritz MHMarkus Hsi-Yang

1 to 10 of 83Source PubMed

See all 83 authors

Topics19

NLM's MeSH indexing of the paper, its major topics first.

MeSH termMajor
Genetic VariationMajor topic
Genome, HumanMajor topic
Physical Chromosome MappingMajor topic
Amino Acid Sequence
Genetic Predisposition to Disease
Genetics, Medical
Genetics, Population
Genome-Wide Association Study
Genomics
Genotype
Haplotypes
Homozygote
Humans
Molecular Sequence Data
Mutation Rate
Polymorphism, Single Nucleotide
Quantitative Trait Loci
Sequence Analysis, DNA
Sequence Deletion

Source PubMed

Grants16

Each grant PubMed's record writes, matched to the NIH project NIH's grant and paper links name for this paper, and each of those links the record does not write.

Grant, as the record writes itAgencyCountryNIH projectStated bySource
P01HG007497NHGRI NIH HHSUnited StatesU41HG007497PubMed and NIHNIH RePORTER
R01HG002898NHGRI NIH HHSUnited StatesR01HG002898PubMed and NIHNIH RePORTER
R01GM59290NIGMS NIH HHSUnited StatesR01GM059290PubMed and NIHNIH RePORTER
RR19895NCRR NIH HHSUnited StatesS10RR019895PubMed and NIHNIH RePORTER
WT104947/Z/14/ZWellcome TrustUnited KingdomPubMedPubMed
U41HG007497NHGRI NIH HHSUnited StatesU41HG007497PubMed and NIHNIH RePORTER
RR029676-01NCRR NIH HHSUnited StatesPubMedPubMed
R01HG007068NHGRI NIH HHSUnited StatesR01HG007068PubMed and NIHNIH RePORTER
WT085532/Z/08/ZWellcome TrustUnited KingdomPubMedPubMed
R01CA166661NCI NIH HHSUnited StatesR01CA166661PubMed and NIHNIH RePORTER

1 to 10 of 16

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Trials1

The trials whose ClinicalTrials.gov record lists the paper, and the trial numbers the paper's PubMed record names.

TrialTitleThe trial lists it asNamed in the paper's record
NCT05661305Aswan Heart Centre - Egyptian Healthy VolunteersBackground

Source ClinicalTrials.gov

Comments and corrections1

PubMed's comments and corrections, NLM's own indexing: retractions first, then expressions of concern, errata and updates, and comments last.

KindPMIDTitleIn Papers
Comment in26,432,243Human genomics: The end of the start for population sequencing.https://conductscience.org/library/papers/26432243

Source PubMed

References40

The papers the reference list in PubMed's record names, those in our copy of PubMed, in the list's order.

OrderPMIDTitleJournalYearIn PapersSource
120,360,734Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.Nature2010https://conductscience.org/library/papers/20360734PubMed
219,812,545Origins and functional impact of copy number variation in the human genome.Nature2010https://conductscience.org/library/papers/19812545PubMed
320,981,092A map of human genome variation from population-scale sequencing.Nature2010https://conductscience.org/library/papers/20981092PubMed
422,424,231CNVs: harbingers of a rare variant revolution in psychiatric genetics.Cell2012https://conductscience.org/library/papers/22424231PubMed
525,883,321Characteristics of de novo structural changes in the human genome.Genome Res2015https://conductscience.org/library/papers/25883321PubMed
619,424,416Widespread genomic signatures of natural selection in hominid evolution.PLoS Genet2009https://conductscience.org/library/papers/19424416PubMed
725,383,537Resolving the complexity of the human genome using single-molecule sequencing.Nature2015https://conductscience.org/library/papers/25383537PubMed
824,037,378Transcriptome and genome sequencing uncovers functional variation in humans.Nature2013https://conductscience.org/library/papers/24037378PubMed
926,432,245A global reference for human genetic variation.Nature2015https://conductscience.org/library/papers/26432245PubMed
1015,654,335A common inversion under selection in Europeans.Nat Genet2005https://conductscience.org/library/papers/15654335PubMed

1 to 10 of 40

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Cited by1,381

The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 1,712 citations.

PMIDTitleJournalYearIn PapersSource
42,978,905Network-based analysis reveals genetic diversity of human-brain expressed genes with high evolutionary rates.Front Neurosci2026https://conductscience.org/library/papers/42978905PubMed
42,972,233Proteomics assisted improvement prediction of risk for adverse cardiovascular events in individuals with metabolic syndrome.BMC Cardiovasc Disord2026https://conductscience.org/library/papers/42972233PubMed
42,958,586The impact of structural variation on Alzheimer's disease in the Alzheimer's disease sequencing project.Genome Biol2026https://conductscience.org/library/papers/42958586PubMed
42,926,531Structural variants from donor-specific assemblies affect recurrent chromatin contact divergence in humans.bioRxiv2026https://conductscience.org/library/papers/42926531PubMed
42,893,698A Nelore Cattle Structural Variant Catalog.Anim Genet2026https://conductscience.org/library/papers/42893698PubMed
42,890,773Pangenome variation analysis uncovers the impacts of SNP-independent structural variations in modern European cattle breeding.IMetaOmics2026https://conductscience.org/library/papers/42890773PubMed
42,881,276Structural variant detection across sequencing technologies.Nat Biotechnol2026https://conductscience.org/library/papers/42881276PubMed
42,880,232Somatic epimutations cap genetic determinism in the human diploid chromatin epigenome.Cell2026https://conductscience.org/library/papers/42880232PubMed
42,845,282Pangenome discovery and characterization of human protein-coding duplicated genes.bioRxiv2026https://conductscience.org/library/papers/42845282PubMed
42,777,077Structural Variant benchmarking frameworks: Parameterization, matching logic, and evaluation assumptions presented through HG002 and NA12878.PLoS Comput Biol2026https://conductscience.org/library/papers/42777077PubMed

1 to 10 of 1,381

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Genes11

The genes the Gene search release ties to the paper: Swiss-Prot's references first, then PubTator's text mining.

GeneNCBI Gene IDLinked byIn GenesSource
CDT181,620PubTator's text mininghttps://conductscience.org/library/genes/81620NCBI Gene
CHL110,752PubTator's text mininghttps://conductscience.org/library/genes/10752NCBI Gene
CNMD11,061PubTator's text mininghttps://conductscience.org/library/genes/11061NCBI Gene
DUSP2256,940PubTator's text mininghttps://conductscience.org/library/genes/56940NCBI Gene
GRID22,895PubTator's text mininghttps://conductscience.org/library/genes/2895NCBI Gene
HERC28,924PubTator's text mininghttps://conductscience.org/library/genes/8924NCBI Gene
IMMP2L83,943PubTator's text mininghttps://conductscience.org/library/genes/83943NCBI Gene
KANSL1284,058PubTator's text mininghttps://conductscience.org/library/genes/284058NCBI Gene
RHOH399PubTator's text mininghttps://conductscience.org/library/genes/399NCBI Gene
SPINK14408,187PubTator's text mininghttps://conductscience.org/library/genes/408187NCBI Gene

1 to 10 of 11

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Drugs0

The drugs whose trials, in the Pipelines release, list the paper.

None in this release.

Data0

The data bank entries PubMed's record names. Trial numbers are under Trials.

None in this release.

Data dates

The date of each source this release read.

PubMed
2026-11-06
PubMed
iCite
2026-11-05
iCite
PMC's ID file
2026-11-05
PMC's ID file
NIH RePORTER's grant and paper links
2026-11-01
NIH RePORTER's grant and paper links
Trials
2026-11-12
Gene search
2026-11-11
Pipelines
2026-09-18

Sources 11

  • ChEMBL, through Open TargetsCC BY-SA 3.0
  • ClinicalTrials.govNo license stated
  • HGNCCC0
  • iCiteCC BY 4.0
  • NCBI GenePublic domain (US government)
  • NIH RePORTER's grant and paper linksPublic domain
  • Open TargetsCC0 1.0
  • PMC's ID filePublic domain (US government)
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0
Each source's terms
  • ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • ClinicalTrials.govnone stated
  • HGNCCC0: https://www.genenames.org/about/license/
  • iCiteCC BY 4.0
  • NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
  • NIH RePORTER's grant and paper linksPublic domain (NIH RePORTER)
  • Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • PMC's ID fileNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

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