Evidence map›Paper›PMID 26912863›Full record

ArticleScience (New York, N.Y.)2016

The phenotypic legacy of admixture between modern humans and Neandertals.

Corinne N Simonti, Benjamin Vernot, Lisa Bastarache, Erwin Bottinger, David S Carrell, Rex L Chisholm, David R Crosslin, Scott J Hebbring, Gail P Jarvik, Iftikhar J Kullo and 11 more

Registry-linked trialAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Science (New York, N.Y.), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05277116 (The Electronic Medical Records and GEnomics), which is not on this map. Cited by 133 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
133citing papers in PubMed, 1 pooled it
–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.

NCT05277116 naactive not recruitingnot on this mapstarted 2022, after this paper: background citation

The Electronic Medical Records and GEnomics (eMERGE) Network Genomic Risk Assessment

TypeinterventionalSponsorVanderbilt University Medical CenterRan2022 to 2030Enrolled26,877ConditionsGenetic DiseaseArmsGenome Informed Risk Assessment (GIRA) report
3 · Its place in the literature

Who cites it

133 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Trial
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  9. Article
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  11. Article
  12. Article
  13. Article
  14. Review
  15. Archaic hominin admixture and its consequences for modern humans.Current opinion in genetics & development · 2025
    Review
  16. Review
  17. Article
  18. Article
  19. Article
  20. Article

73 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

21 authors.

Corinne N SimontiVanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, USA.
Benjamin VernotDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.
Lisa BastaracheDepartment of Biomedical Informatics, Vanderbilt University, Nashville, TN, USA.
Erwin BottingerMount Sinai School of Medicine, New York, NY, USA.
David S CarrellDepartment of Medicine (Medical Genetics), University of Washington Medical Center, Seattle, WA, USA.
Rex L ChisholmCenter for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
David R CrosslinDepartment of Genome Sciences, University of Washington, Seattle, WA, USA. Department of Medicine (Medical Genetics), University of Washington Medical Center, Seattle, WA, USA.
Scott J HebbringCenter for Human Genetics, Marshfield Clinic, Marshfield, WI, USA.
Gail P JarvikDepartment of Genome Sciences, University of Washington, Seattle, WA, USA. Department of Medicine (Medical Genetics), University of Washington Medical Center, Seattle, WA, USA.
Iftikhar J KulloDivision of Cardiovascular Diseases, Mayo Clinic, Rochester, MN, USA.
Rongling LiDivision of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Jyotishman PathakDivision of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Marylyn D RitchieDepartment of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA. Biomedical and Translational Informatics, Geisinger Health System, Danville, PA, USA.
Dan M RodenVanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, USA. Department of Biomedical Informatics, Vanderbilt University, Nashville, TN, USA. Department of Medicine, Vanderbilt University, Nashville, TN, USA. Department of Pharmacology, Vanderbilt University, Nashville, TN, USA.
Shefali S VermaDepartment of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA.
Gerard TrompWeis Center for Research, Geisinger Health System, Danville, PA, USA. Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Health Science, Stellenbosch University, Tygerberg, South Africa.
Jeffrey D PratoDepartment of Biomedical Informatics, Vanderbilt University, Nashville, TN, USA.
William S BushDepartment of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, USA.
Joshua M AkeyDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.
Joshua C DennyVanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, USA. Department of Biomedical Informatics, Vanderbilt University, Nashville, TN, USA. Department of Medicine, Vanderbilt University, Nashville, TN, USA.
John A CapraVanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, USA. Department of Biomedical Informatics, Vanderbilt University, Nashville, TN, USA. Department of Biological Sciences, Vanderbilt University, Nashville, TN, USA. Center for Quantitative Sciences, Vanderbilt University, Nashville, TN, USA.

Funding

Institutional Clinical and Translational Science AwardUL1TR000427 · NCATS · UNIVERSITY OF WISCONSIN-MADISON · PI DREZNER, MARC KENNETH · 2012 to 2016
$32.2M
JH/CIDR Genotyping for Genome-Wide Association StudiesU01HG004438 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2007 to 2011
$24.2M
Genomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5M
Variation, Function, and Disease Supplement ProgramU01HG008657 · NHGRI · UNIVERSITY OF WASHINGTON · PI David Russell Crosslin, Gail Pairitz Jarvik · 2015 to 2026
$13.4M
Vanderbilt Genome-Electronic Records ProjectU01HG004603 · NHGRI · VANDERBILT UNIVERSITY · PI RODEN, DAN M · 2007 to 2011
$7.3M
From GWAS to PheWAS: Scanning the EMR Phenome for Gene-disease AssociationsR01LM010685 · NLM · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BASTARACHE, LISA · 2011 to 2022
$6.3M
eMERGE Coordinating Center - Administrative SupplementU01HG006385 · NHGRI · VANDERBILT UNIVERSITY · PI HARRIS, PAUL A. · 2011 to 2014
$5.4M
VGER, the Vanderbilt Genome-Electronic Records ProjectU01HG008672 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI DENNY, JOSHUA C., RODEN, DAN M · 2015 to 2019
$5.1M
Biorepository for Genomic Medicine in diverse CommunitiesU01HG006380 · NHGRI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BOTTINGER, ERWIN P. · 2011 to 2015
$4.5M
Geisinger eGenonic Medicine (GeM) ProgramU01HG006382 · NHGRI · GEISINGER CLINIC · PI CAREY, DAVID J., WILLIAMS, MARC S. · 2011 to 2014
$4.3M
Development and Use of Network Infrastructure for High-Throughput GWA StudiesU01HG004610 · NHGRI · KAISER FOUNDATION HEALTH PLAN OF WASHINGTON · PI LARSON, ERIC B · 2007 to 2010
$4.2M
A Personalized Genomic Medicine Pilot Program Using the NJgene eMERGE ExperienceU01HG006388 · NHGRI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI CHISHOLM, REX L, SMITH, MAUREEN E · 2011 to 2014
$4.1M
NCATS NIH HHS UL1 TR000427NEI NIH HHS 5T32EY021453NEI NIH HHS T32 EY021453NHGRI NIH HHS U01 HG004438NHGRI NIH HHS U01HG004438NHGRI NIH HHS U01 HG004599NHGRI NIH HHS U01 HG004603NHGRI NIH HHS U01 HG004608NHGRI NIH HHS U01HG004608NHGRI NIH HHS U01 HG004609NHGRI NIH HHS U01HG004609NHGRI NIH HHS U01 HG004610NHGRI NIH HHS U01HG004610NHGRI NIH HHS U01 HG006375NHGRI NIH HHS U01 HG006378NHGRI NIH HHS U01HG006378NHGRI NIH HHS U01 HG006379NHGRI NIH HHS U01HG006379NHGRI NIH HHS U01 HG006380NHGRI NIH HHS U01HG006380NHGRI NIH HHS U01 HG006382NHGRI NIH HHS U01HG006382NHGRI NIH HHS U01 HG006385NHGRI NIH HHS U01HG006385NHGRI NIH HHS U01 HG006388NHGRI NIH HHS U01HG006388NHGRI NIH HHS U01 HG006389NHGRI NIH HHS U01HG006389NHGRI NIH HHS U01 HG008657NHGRI NIH HHS U01HG008657NHGRI NIH HHS U01 HG008672NHGRI NIH HHS U01 HG008673NHGRI NIH HHS U01HG04599NHGRI NIH HHS U01HG04603NIGMS NIH HHS 1R01GM114128NIGMS NIH HHS R01 GM110068NIGMS NIH HHS R01GM110068NIGMS NIH HHS R01 GM114128NLM NIH HHS 1K22LM011938NLM NIH HHS K22 LM011938NLM NIH HHS R01 LM010685NLM NIH HHS R01LM010685
6 · The paper itself

Abstract

Many modern human genomes retain DNA inherited from interbreeding with archaic hominins, such as Neandertals, yet the influence of this admixture on human traits is largely unknown. We analyzed the contribution of common Neandertal variants to over 1000 electronic health record (EHR)-derived phenotypes in ~28,000 adults of European ancestry. We discovered and replicated associations of Neandertal alleles with neurological, psychiatric, immunological, and dermatological phenotypes. Neandertal alleles together explained a significant fraction of the variation in risk for depression and skin lesions resulting from sun exposure (actinic keratosis), and individual Neandertal alleles were significantly associated with specific human phenotypes, including hypercoagulation and tobacco use. Our results establish that archaic admixture influences disease risk in modern humans, provide hypotheses about the effects of hundreds of Neandertal haplotypes, and demonstrate the utility of EHR data in evolutionary analyses.

Indexed as

AllelesAnimalsDepressionDiseaseEvolution, MolecularGenetic VariationGenome, HumanHaplotypesHumansKeratosis, ActinicNeanderthalsPhenotypeWhite People

Identifiers

PMID26912863
PMCPMC4849557

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Registered trials

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.