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Paper · 26432245

A global reference for human genetic variation.

1000 Genomes Project Consortium and 10 others. Nature, 2015. Cited by 14,158 papers, by iCite.

11 sourcespapers-2026-11-12-0.1.0

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ConductScience Library. A global reference for human genetic variation. Papers, record 26432245. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/26432245

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Paper

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

Title
A global reference for human genetic variation.
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
14,158
iCite
Relative citation ratio, by iCite
483
iCite
Revised in PubMed
2026-11-02
PubMed

Authors11

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

OrderAuthorForenameKindORCID iD
11000 Genomes Project ConsortiumGroup
2Auton AAdam
3Brooks LDLisa D
4Durbin RMRichard M
5Garrison EPErik P
6Kang HMHyun Min
7Korbel JOJan O
8Marchini JLJonathan L
9McCarthy SShane
10McVean GAGil A

1 to 10 of 11Source PubMed

See all 11 authors

Topics22

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

MeSH termMajor
Genetic VariationMajor topic
Genetics, PopulationMajor topic
Genome, HumanMajor topic
GenomicsMajor topic
InternationalityMajor topic
Datasets as Topic
Demography
Disease Susceptibility
Exome
Genetics, Medical
Genome-Wide Association Study
Genotype
Haplotypes
High-Throughput Nucleotide Sequencing
Humans
INDEL Mutation
Physical Chromosome Mapping
Polymorphism, Single Nucleotide
Quantitative Trait Loci
Rare Diseases
Reference Standards
Sequence Analysis, DNA

Source PubMed

Grants70

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
R01HG7068NHGRI NIH HHSUnited StatesR01HG007068PubMed and NIHNIH RePORTER
U54 HG003067NHGRI NIH HHSUnited StatesU54HG003067PubMed and NIHNIH RePORTER
WT090770/Z/09/ZWellcome TrustUnited KingdomPubMedPubMed
R01HG6855NHGRI NIH HHSUnited StatesR01HG006855PubMed and NIHNIH RePORTER
T32 HL094284NHLBI NIH HHSUnited StatesT32HL094284PubMed and NIHNIH RePORTER
090532/Z/09/ZWellcome TrustUnited KingdomPubMedPubMed
R01HL87699NHLBI NIH HHSUnited StatesR01HL087699PubMed and NIHNIH RePORTER
R01HG4960NHGRI NIH HHSUnited StatesR01HG004960PubMed and NIHNIH RePORTER
R01 HG002898NHGRI NIH HHSUnited StatesR01HG002898PubMed and NIHNIH RePORTER
R01 GM108805NIGMS NIH HHSUnited StatesR01GM108805PubMed and NIHNIH RePORTER

1 to 10 of 70

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Trials4

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 recordSource
NCT03766191Genetic Predisposition to Food Cue Reactivity in ChildrenBackgroundClinicalTrials.gov
NCT04247919DOAC ADRs Retrospective StudyBackgroundClinicalTrials.gov
NCT04580589DOAC ADRs Retrospective Study on Genetic VariationsBackgroundClinicalTrials.gov
NCT05661305Aswan Heart Centre - Egyptian Healthy VolunteersBackgroundClinicalTrials.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

References38

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

OrderPMIDTitleJournalYearIn PapersSource
115,761,122Complement factor H polymorphism in age-related macular degeneration.Science2005https://conductscience.org/library/papers/15761122PubMed
216,174,643Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.Hum Mol Genet2005https://conductscience.org/library/papers/16174643PubMed
316,357,253SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans.Science2005https://conductscience.org/library/papers/16357253PubMed
416,518,403Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration.Nat Genet2006https://conductscience.org/library/papers/16518403PubMed
517,634,448Complement C3 variant and the risk of age-related macular degeneration.N Engl J Med2007https://conductscience.org/library/papers/17634448PubMed
618,172,690Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression.Hum Genet2008https://conductscience.org/library/papers/18172690PubMed
718,511,946Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA.Nat Genet2008https://conductscience.org/library/papers/18511946PubMed
818,642,345Bayes factors for genome-wide association studies: comparison with P-values.Genet Epidemiol2009https://conductscience.org/library/papers/18642345PubMed
919,648,217Fast model-based estimation of ancestry in unrelated individuals.Genome Res2009https://conductscience.org/library/papers/19648217PubMed
1020,385,819Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.Proc Natl Acad Sci U S A2010https://conductscience.org/library/papers/20385819PubMed

1 to 10 of 38

See all 38 references

Cited by10,809

The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 14,158 citations.

PMIDTitleJournalYearIn PapersSource
42,982,761The shared genetic architecture of the TDP-43 spectrum: Bridging clinical FTLD and neuropathological endophenotypes.Alzheimers Dement2026https://conductscience.org/library/papers/42982761PubMed
42,979,583Blood pressure and intraocular pressure in the Canadian Longitudinal Study on Aging: a bidirectional Mendelian randomization analysis.Front Genet2026https://conductscience.org/library/papers/42979583PubMed
42,979,568Refining the genetic architecture of myocardial infarction through integrative post-genome-wide association study functional genomics analysis.Bioinform Adv2026https://conductscience.org/library/papers/42979568PubMed
42,979,107paRDal: bioinformatics framework for a parallel RNA and DNA NGS analysis in hereditary cancer diagnostics.Front Bioinform2026https://conductscience.org/library/papers/42979107PubMed
42,976,148BAG3 genetic variant is associated with heart failure with preserved ejection fraction phenotypes.PLoS One2026https://conductscience.org/library/papers/42976148PubMed
42,972,375Effects of maternal and paternal smoking on offspring cardiometabolic risk factors in adulthood: a multi-method intergenerational Mendelian randomization study.BMC Med2026https://conductscience.org/library/papers/42972375PubMed
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
42,968,130Genetic Correlates of Treatment Utilization for Alcohol Use Disorder: A Family-Based and Polygenic Investigation.Alcohol Clin Exp Res (Hoboken)2026https://conductscience.org/library/papers/42968130PubMed
42,966,765ESMRank: learning-to-rank prediction of missense variant effects from deep mutational scanning data.Mol Syst Biol2026https://conductscience.org/library/papers/42966765PubMed
42,964,882Adiponectin and Pulmonary Hypertension Risk: Mendelian Randomization and Receptor-Side Genetic Evidence.Pulm Circ2026https://conductscience.org/library/papers/42964882PubMed

1 to 10 of 10,809

See all 10,809 cited by

Genes8

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
ARMS2387,715PubTator's text mininghttps://conductscience.org/library/genes/387715NCBI Gene
HERC28,924PubTator's text mininghttps://conductscience.org/library/genes/8924NCBI Gene
HTRA15,654PubTator's text mininghttps://conductscience.org/library/genes/5654NCBI Gene
LCT3,938PubTator's text mininghttps://conductscience.org/library/genes/3938NCBI Gene
LYST1,130PubTator's text mininghttps://conductscience.org/library/genes/1130NCBI Gene
RAPSN5,913PubTator's text mininghttps://conductscience.org/library/genes/5913NCBI Gene
SLC24A5283,652PubTator's text mininghttps://conductscience.org/library/genes/283652NCBI Gene
TRBV928,586PubTator's text mininghttps://conductscience.org/library/genes/28586NCBI Gene

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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