Evidence map›Paper›PMID 27973554›Full record

ArticlePloS one2016

Strategies for Enriching Variant Coverage in Candidate Disease Loci on a Multiethnic Genotyping Array.

Stephanie A Bien, Genevieve L Wojcik, Niha Zubair, Christopher R Gignoux, Alicia R Martin, Jonathan M Kocarnik, Lisa W Martin, Steven Buyske, Jeffrey Haessler, Ryan W Walker and 17 more

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
70citing papers in PubMed, 2 pooled it
5.4field-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

70 citing papers in PubMed, 2 syntheses or guidelines pooled it, 117 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
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  6. Review
  7. Dysregulated Fatty Acid Metabolism in Preeclampsia Among Highland Andeans: Insights Into Adaptive and Maladaptive Placental Metabolic Phenotypes.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025
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  17. Fast and scalable ensemble learning method for versatile polygenic risk prediction.Proceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  18. Article
  19. Article
  20. Article

10 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

27 authors at 11 institutions in 1 country.

Stephanie A BienDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America.ORCID http://orcid.org/0000-0002-8713-4583
Genevieve L WojcikDepartment of Genetics, Stanford University, Stanford, California, United States of America.ORCID http://orcid.org/0000-0001-7206-8088
Niha ZubairDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America.
Christopher R GignouxDepartment of Genetics, Stanford University, Stanford, California, United States of America.
Alicia R MartinDepartment of Genetics, Stanford University, Stanford, California, United States of America.ORCID http://orcid.org/0000-0003-0241-3522
Jonathan M KocarnikDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America.ORCID http://orcid.org/0000-0001-8084-1608
Lisa W MartinDivision of Cardiology, George Washington University School of Medicine and Health Sciences, Washington, DC, United States of America.
Steven BuyskeDepartment of Genetics, School of Arts and Sciences, Rutgers University, Piscataway, New Jersey, United States of America.ORCID http://orcid.org/0000-0001-8539-5416
Jeffrey HaesslerDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America.
Ryan W WalkerThe Charles Bronfman Institute for Personalized Medicine, The Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.
Iona ChengCancer Prevention Institute of California, Fremont, California, United States of America.
Mariaelisa GraffDepartment of Epidemiology, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, North Carolina, United States of America.
Lucy XiaDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California/Norris Comprehensive Cancer Center, Los Angeles, California, United States of America.
Nora FranceschiniDepartment of Epidemiology, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, North Carolina, United States of America.
Tara MatiseDepartment of Genetics, School of Arts and Sciences, Rutgers University, Piscataway, New Jersey, United States of America.
Regina JamesDivision of Intramural Research, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, United States of America.
Lucia HindorffDivision of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.ORCID http://orcid.org/0000-0002-4414-3236
Loic Le MarchandDepartment of Epidemiology Program, University of Hawai'i Cancer Center, Honolulu, Hawai'i, United States of America.
Kari E NorthDepartment of Epidemiology, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, North Carolina, United States of America.
Christopher A HaimanDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California/Norris Comprehensive Cancer Center, Los Angeles, California, United States of America.
Ulrike PetersDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America.
Ruth J F LoosThe Charles Bronfman Institute for Personalized Medicine, The Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.
Charles L KooperbergDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America.
Carlos D BustamanteDepartment of Genetics, Stanford University, Stanford, California, United States of America.
Eimear E KennyThe Charles Bronfman Institute for Personalized Medicine, The Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.
Christopher S CarlsonDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America.
PAGE Study
Fred Hutch Cancer Center · USStanford University · USIcahn School of Medicine at Mount Sinai · USUniversity of North Carolina at Chapel Hill · USNational Institutes of Health · USRutgers, The State University of New Jersey · USUniversity of Southern California · USUniversity of Washington · USCancer Prevention Institute of California · USGeorge Washington University · USUniversity of Hawaiʻi at Mānoa · US

Funding

ZONA-FREE HAMSTER OVA ASSAY AS AN INDICATOR OF MALE FERTILITYM01RR000425 · NCRR · LUNDQUIST INSTITUTE FOR BIOMEDICAL INNOVATION AT HARBOR-UCLA MEDICAL CENTER · PI ANDERSON, GAIL V · 1985 to 2011
$74.2M
University of Hawaii Cancer Center CCSGP30CA071789 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI GERTRAUD MASKARINEC · 1996 to 2026
$56.2M
Transgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Andrea L Hevener · 2003 to 2026
$40.4M
Multiethnic Cohort Study of Diet and CancerR37CA054281 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI KOLONEL, LAURENCE N. · 2003 to 2012
$23.2M
The Strong Heart Study, Phase VU01HL041654 · NHLBI · UNIVERSITY OF OKLAHOMA HLTH SCIENCES CTR · PI LEE, ELISA TAN · 1988 to 2013
$19.2M
VALIDATION OF A DIET HISTORY METHOD FOR EPIDEMIOLOGIC STUDIES OF CANCERP01CA033619 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI KOLONEL, LAURENCE N. · 1985 to 2010
$18.5M
GENETICS TRAINING PROGRAM FOR PHD CANDIDATEST32GM007790 · NIGMS · STANFORD UNIVERSITY · PI BRUNET, ANNE, KINGSLEY, DAVID M · 1985 to 2020
$12.8M
CARDIOVASCULAR DISEASE IN THE PIMA INDIANSU01HL041642 · NHLBI · MEDSTAR RESEARCH INSTITUTE · PI HOWARD, BARBARA V · 1988 to 2013
$12.6M
Characterizing Genetic Susceptibility to Breast and Prostate Cancer; the BPC3U01CA098758 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HENDERSON, BRIAN E · 2003 to 2010
$11.0M
Epidemiology of putative genuine genetic variant: The Women's Health IntiativeU01HG004790 · NHGRI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI KOOPERBERG, CHARLES L · 2008 to 2012
$9.9M
Research Services CoreP2CHD050924 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI KAREN B GUZZO · 2015 to 2026
$9.6M
A Genome-wide Association Study of Prostate Cancer in African AmericansU01CA136792 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HENDERSON, BRIAN E · 2009 to 2011
$9.4M
NCI NIH HHS P01 CA033619NCI NIH HHS P30 CA071789NCI NIH HHS R37 CA054281NCI NIH HHS U01 CA098758NCI NIH HHS U01 CA136792NCRR NIH HHS M01 RR000425NHGRI NIH HHS U01 HG004790NHGRI NIH HHS U01 HG004801NHGRI NIH HHS U01 HG004802NHGRI NIH HHS U01 HG004803NHGRI NIH HHS U01 HG007376NHGRI NIH HHS U01 HG007397NHLBI NIH HHS N01 HC005187NHLBI NIH HHS N01 HC015103NHLBI NIH HHS N01 HC035129NHLBI NIH HHS N01 HC045133NHLBI NIH HHS N01 HC045134NHLBI NIH HHS N01 HC045205NHLBI NIH HHS N01 HC048047NHLBI NIH HHS N01 HC048048NHLBI NIH HHS N01 HC048049NHLBI NIH HHS N01 HC048050NHLBI NIH HHS N01 HC055015NHLBI NIH HHS N01 HC055016NHLBI NIH HHS N01 HC055018NHLBI NIH HHS N01 HC055019NHLBI NIH HHS N01 HC055020NHLBI NIH HHS N01 HC055021NHLBI NIH HHS N01 HC055022NHLBI NIH HHS N01 HC055222NHLBI NIH HHS N01 HC065233NHLBI NIH HHS N01 HC065234NHLBI NIH HHS N01 HC065235NHLBI NIH HHS N01 HC065236NHLBI NIH HHS N01 HC065237NHLBI NIH HHS N01 HC075150NHLBI NIH HHS N01 HC085079NHLBI NIH HHS N01 HC085086NHLBI NIH HHS N01 HC095095NHLBI NIH HHS R01 HL087652NHLBI NIH HHS R01 HL163262NHLBI NIH HHS U01 HL041642NHLBI NIH HHS U01 HL041652NHLBI NIH HHS U01 HL041654NHLBI NIH HHS U01 HL065520NHLBI NIH HHS U01 HL065521NHLBI NIH HHS U01 HL080295NICHD NIH HHS P2C HD050924NICHD NIH HHS T32 HD049311NIDDK NIH HHS P30 DK063491NIGMS NIH HHS T32 GM007790NIH HHS S10 OD020069WHI NIH HHS N01 WH022110
6 · The paper itself

Abstract

Investigating genetic architecture of complex traits in ancestrally diverse populations is imperative to understand the etiology of disease. However, the current paucity of genetic research in people of African and Latin American ancestry, Hispanic and indigenous peoples in the United States is likely to exacerbate existing health disparities for many common diseases. The Population Architecture using Genomics and Epidemiology, Phase II (PAGE II), Study was initiated in 2013 by the National Human Genome Research Institute to expand our understanding of complex trait loci in ethnically diverse and well characterized study populations. To meet this goal, the Multi-Ethnic Genotyping Array (MEGA) was designed to substantially improve fine-mapping and functional discovery by increasing variant coverage across multiple ethnicities at known loci for metabolic, cardiovascular, renal, inflammatory, anthropometric, and a variety of lifestyle traits. Studying the frequency distribution of clinically relevant mutations, putative risk alleles, and known functional variants across multiple populations will provide important insight into the genetic architecture of complex diseases and facilitate the discovery of novel, sometimes population-specific, disease associations. DNA samples from 51,650 self-identified African ancestry (17,328), Hispanic/Latino (22,379), Asian/Pacific Islander (8,640), and American Indian (653) and an additional 2,650 participants of either South Asian or European ancestry, and other reference panels have been genotyped on MEGA by PAGE II. MEGA was designed as a new resource for studying ancestrally diverse populations. Here, we describe the methodology for selecting trait-specific content for use in multi-ethnic populations and how enriching MEGA for this content may contribute to deeper biological understanding of the genetic etiology of complex disease.

Indexed as

Genetic VariationGenome, HumanAllelesAnthropometryChromosome MappingEthnicityExomeFemaleGenome-Wide Association StudyGenomicsGenotypeHumansMaleMutationUnited States

Identifiers

PMID27973554
PMCPMC5156387
OpenAlexW2563392956

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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.