Evidence map›Paper›PMID 30978304›Full record

ReviewAnnual review of genomics and human genetics2019

The Future of Genomic Studies Must Be Globally Representative: Perspectives from PAGE.

Stephanie A Bien, Genevieve L Wojcik, Chani J Hodonsky, Christopher R Gignoux, Iona Cheng, Tara C Matise, Ulrike Peters, Eimear E Kenny, Kari E North

Open access · greenAbstract readReview
In one paragraph

Review in Annual review of genomics and human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed
5.2field-weighted citation impact, top 4% 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

39 citing papers in PubMed, 56 citations in OpenAlex.

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  20. Strategies for the Genomic Analysis of Admixed Populations.Annual review of biomedical data science · 2023
    Review
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

9 authors at 7 institutions in 1 country.

Stephanie A BienDepartment of Public Health Science, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA; email: sbien@fredhutch.org, upeters@fredhutch.org.
Genevieve L WojcikDepartment of Biomedical Data Science, Stanford University School of Medicine, Stanford, California 94305, USA; email: gwojcik@stanford.edu.
Chani J HodonskyDepartment of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599, USA; email: chani_hodonsky@unc.edu, kari_north@unc.edu.
Christopher R GignouxColorado Center for Personalized Medicine, Anschutz Medical Campus, University of Colorado, Aurora, Colorado 80045, USA; email: chris.gignoux@ucdenver.edu.
Iona ChengDepartment of Epidemiology and Biostatistics, University of California, San Francisco, California 94158, USA; email: iona.cheng@ucsf.edu.
Tara C MatiseDepartment of Genetics, Rutgers University, New Brunswick, New Jersey 08554, USA; email: matise@dls.rutgers.edu.
Ulrike PetersDepartment of Public Health Science, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA; email: sbien@fredhutch.org, upeters@fredhutch.org.
Eimear E KennyDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; email: eimear.kenny@mssm.edu.
Kari E NorthDepartment of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599, USA; email: chani_hodonsky@unc.edu, kari_north@unc.edu.
Fred Hutch Cancer Center · USUniversity of North Carolina at Chapel Hill · USIcahn School of Medicine at Mount Sinai · USRutgers, The State University of New Jersey · USStanford University · USUniversity of California, San Francisco · USUniversity of Colorado Anschutz Medical Campus · US

Funding

Understanding Population Differences in Cancer: The MEC StudyU01CA164973 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI HAIMAN, CHRISTOPHER ALAN, LE MARCHAND, LOIC · 2015 to 2025
$37.4M
New Approaches for Empowering Studies of Asthma in Populations of African DescentR01HL104608 · NHLBI · UNIVERSITY OF COLORADO DENVER · PI BARNES, KATHLEEN C, KENNY, EIMEAR ELIZABETH · 2011 to 2022
$23.1M
Cardiovascular Epidemiology Training GrantT32HL007055 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Wayne D. Rosamond · 1986 to 2026
$10.0M
Optimizing imputation for diverse populations in a distributed frameworkU01HG009080 · NHGRI · STANFORD UNIVERSITY · PI KENNY, EIMEAR ELIZABETH · 2016 to 2020
$5.2M
The Genetic Epidemiology of Heart, Lung, and Blood TraitsTraining Grant (GenHLB)T32HL129982 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Christy Leigh Avery, KAREN L. MOHLKE · 2016 to 2026
$3.8M
Epidemiologic Studies of Putative Functional Variation in Multiethnic CohortU01HG007397 · NHGRI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HAIMAN, CHRISTOPHER ALAN, LE MARCHAND, LOIC · 2013 to 2017
$3.7M
NHGRI PAGE Coordinating CenterU01HG007419 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, MATISE, TARA C. · 2013 to 2017
$3.7M
Diverse ancestry biobank to map biomedical traits and elucidate health disparitieU01HG007417 · NHGRI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI LOOS, RUTH JF · 2013 to 2017
$3.5M
Exonic variants and their relation to complex traits in minorities of the WHIU01HG007376 · NHGRI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI KOOPERBERG, CHARLES L · 2013 to 2017
$3.2M
Leveraging ancestral diversity to map adiposity loci in HispanicsR01DK101855 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI HAIMAN, CHRISTOPHER ALAN, LOOS, RUTH JF · 2014 to 2016
$2.1M
PAGE III: Population Architecture using Genomics and EpidemiologyR56HG010297 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, HAIMAN, CHRISTOPHER ALAN · 2018 to 2018
$1.0M
NCI NIH HHS U01 CA164973NHGRI NIH HHS R56 HG010297NHGRI NIH HHS U01 HG007376NHGRI NIH HHS U01 HG007397NHGRI NIH HHS U01 HG007417NHGRI NIH HHS U01 HG007419NHGRI NIH HHS U01 HG009080NHLBI NIH HHS R01 HL104608NHLBI NIH HHS T32 HL007055NHLBI NIH HHS T32 HL129982NIDDK NIH HHS R01 DK101855
6 · The paper itself

Abstract

The past decade has seen a technological revolution in human genetics that has empowered population-level investigations into genetic associations with phenotypes. Although these discoveries rely on genetic variation across individuals, association studies have overwhelmingly been performed in populations of European descent. In this review, we describe limitations faced by single-population studies and provide an overview of strategies to improve global representation in existing data sets and future human genomics research via diversity-focused, multiethnic studies. We highlight the successes of individual studies and meta-analysis consortia that have provided unique knowledge. Additionally, we outline the approach taken by the Population Architecture Using Genomics and Epidemiology (PAGE) study to develop best practices for performing genetic epidemiology in multiethnic contexts. Finally, we discuss how limiting investigations to single populations impairs findings in the clinical domain for both rare-variant identification and genetic risk prediction.

Indexed as

Genetic VariationBiasDatabases, FactualEthnicityGenome, HumanGenome-Wide Association StudyGenotypeHuman GeneticsHumansMetagenomicsMolecular EpidemiologyPhenotypeRacial Groupsdiversityfine mappinggenomicsmultiethnicPAGEtransethnic

Identifiers

PMID30978304
PMCPMC7012212
OpenAlexW2935688323

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

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 OpenQuestion graph.