Evidence map›Paper›PMID 27571263›Full record

ArticleNature genetics2016

Next-generation genotype imputation service and methods.

Sayantan Das, Lukas Forer, Sebastian Schönherr, Carlo Sidore, Adam E Locke, Alan Kwong, Scott I Vrieze, Emily Y Chew, Shawn Levy, Matt McGue and 11 more

Registry-linked trialAbstract read
In one paragraph

Article in Nature genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04331535 (Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care), which is not on this map. Cited by 2,640 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2,640citing papers in PubMed, 6 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.

NCT04331535 naunknown statusnot on this mapstarted 2020, after this paper: background citation

Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care

TypeinterventionalSponsorBoston VA Research Institute, Inc.Ran2020 to 2025Enrolled1,076ConditionsCoronary Artery Disease, Atrial Fibrillation, Type 2 Diabetes, Colorectal CancerArmsPolygenic risk score (PRS)
3 · Its place in the literature

Who cites it

2,640 citing papers in PubMed, 6 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Pooled it
  6. Pooled it
  7. Platelet count polygenic scores may modify the effect of aspirin in primary prevention of dementia.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026
    Trial
  8. Germline Variation and Somatic Alterations in Ewing Sarcoma.Methods in molecular biology (Clifton, N.J.) · 2027
    Article
  9. Article
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  11. Review
  12. Article
  13. Age-Specific Associations of Polygenic Risk Scores With Advanced Fibrosis and Histological Activity in Biopsy-Proven MASLD.Liver international : official journal of the International Association for the Study of the Liver · 2026
    Article
  14. Article
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2,580 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

21 authors.

Sayantan Das *Department of Biostatistics, Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Lukas Forer *Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck, Austria.
Sebastian Schönherr *Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck, Austria.
Carlo SidoreDepartment of Biostatistics, Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Adam E LockeDepartment of Biostatistics, Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Alan KwongDepartment of Biostatistics, Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Scott I VriezeInstitute for Behavioral Genetics, University of Colorado, Boulder, Colorado, USA.
Emily Y ChewClinical Trials Branch, Division of Epidemiology and Clinical Applications, National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA.
Shawn LevyHudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.
Matt McGueDepartment of Psychology, University of Minnesota, Minneapolis, Minnesota, USA.
David SchlessingerLaboratory of Genetics, National Institute on Aging, US National Institutes of Health, Baltimore, Maryland, USA.
Dwight StambolianDepartment of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Po-Ru LohDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.
William G IaconoDepartment of Psychology, University of Minnesota, Minneapolis, Minnesota, USA.
Anand SwaroopNeurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA.
Laura J ScottDepartment of Biostatistics, Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Francesco CuccaIstituto di Ricerca Genetica e Biomedica, CNR, Monserrato, Cagliari, Italy.
Florian KronenbergDivision of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck, Austria.
Michael BoehnkeDepartment of Biostatistics, Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Gonçalo R AbecasisDepartment of Biostatistics, Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Christian FuchsbergerDepartment of Biostatistics, Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.

Funding

Mechanisms, modeling and therapies of retinal and macular neurodegenerationZIAEY000546 · NEI · NATIONAL EYE INSTITUTE · PI SWAROOP, ANAND · 2015 to 2025
$36.3M
Substance Abuse & Behavioral Disinhibition: Integrating Genes & EnvironmentU01DA024417 · NIDA · UNIVERSITY OF MINNESOTA · PI IACONO, WILLIAM G. · 2007 to 2010
$10.8M
Studies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5M
TWIN STUDY OF FEMALE ALCOHOLISMS AND OTHER DISORDERSR01AA009367 · NIAAA · UNIVERSITY OF MINNESOTA TWIN CITIES · PI MCGUE, MATTHEW K. · 1992 to 2013
$9.0M
Twin Family Study of Vulnerability to Substance AbuseR37DA005147 · NIDA · UNIVERSITY OF MINNESOTA · PI IACONO, WILLIAM G. · 2009 to 2018
$6.4M
Studies of Rare Genetic Variation in the Isolated Population of SardiniaU01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2017 to 2018
$6.3M
Aging-related Traits and Disease Risk Factors in a Sardinian Population CohortZIAAG000675 · NIA · NATIONAL INSTITUTE ON AGING · PI GOROSPE, MYRIAM · 2009 to 2021
$5.7M
DESIGN AND ANALYSIS OF HUMAN GENE MAPPING STUDIESR01HG000376 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOEHNKE, MICHAEL L · 1993 to 2016
$5.5M
TWIN/FAMILY STUDY OF VULNERABILITY TO SUBSTANCE ABUSER01DA005147 · NIDA · UNIVERSITY OF MINNESOTA TWIN CITIES · PI IACONO, WILLIAM G · 1987 to 2007
$5.5M
Adolescent drinking and midlife outcomes: A prospective cotwin control studyR37AA009367 · NIAAA · UNIVERSITY OF MINNESOTA · PI MCGUE, MATTHEW K. · 2016 to 2024
$5.4M
Adult consequences of youth substance use: Twin study enriched for SUD riskR01DA036216 · NIDA · UNIVERSITY OF MINNESOTA · PI IACONO, WILLIAM G. · 2013 to 2017
$3.2M
Computational and statistical models for human geneticsR01HG007022 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2012 to 2016
$3.0M
NHGRI NIH HHS R01 HG000376NHGRI NIH HHS R01 HG007022NHGRI NIH HHS R56 HG000376NHLBI NIH HHS R01 HL117626NHLBI NIH HHS U01 HL117626NIAAA NIH HHS R01 AA009367NIAAA NIH HHS R37 AA009367NIDA NIH HHS R01 DA005147NIDA NIH HHS R01 DA024417NIDA NIH HHS R01 DA036216NIDA NIH HHS R01 DA037904NIDA NIH HHS R37 DA005147NIDA NIH HHS U01 DA024417
6 · The paper itself

Abstract

Genotype imputation is a key component of genetic association studies, where it increases power, facilitates meta-analysis, and aids interpretation of signals. Genotype imputation is computationally demanding and, with current tools, typically requires access to a high-performance computing cluster and to a reference panel of sequenced genomes. Here we describe improvements to imputation machinery that reduce computational requirements by more than an order of magnitude with no loss of accuracy in comparison to standard imputation tools. We also describe a new web-based service for imputation that facilitates access to new reference panels and greatly improves user experience and productivity.

Indexed as

AlgorithmsGenotypeComputer SimulationGenome-Wide Association StudyHaplotypesHumansInternet

Identifiers

PMID27571263
PMCPMC5157836

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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.