Evidence map›Paper›PMID 30131328›Full record

ArticleG3 (Bethesda, Md.)2018

Imputation-Aware Tag SNP Selection To Improve Power for Large-Scale, Multi-ethnic Association Studies.

Genevieve L Wojcik, Christian Fuchsberger, Daniel Taliun, Ryan Welch, Alicia R Martin, Suyash Shringarpure, Christopher S Carlson, Goncalo Abecasis, Hyun Min Kang, Michael Boehnke and 3 more

Abstract read
In one paragraph

Article in G3 (Bethesda, Md.), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
35citing 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.

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

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

  1. Pooled it
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  12. NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations.Movement disorders : official journal of the Movement Disorder Society · 2024
    Article
  13. Imputation accuracy across global human populations.American journal of human genetics · 2024
    Article
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  16. Article
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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

13 authors.

Genevieve L WojcikDepartment of Genetics, Stanford University School of Medicine, 365 Lasuen Street, Littlefield Center MC2069, Stanford, CA 94305.ORCID 0000-0001-7206-8088
Christian FuchsbergerDepartment of Biostatistics and Center for Statistical Genetics, School of Public Health, University of Michigan, 1415 Washington Heights, Ann Arbor, MI 48109.
Daniel TaliunDepartment of Biostatistics and Center for Statistical Genetics, School of Public Health, University of Michigan, 1415 Washington Heights, Ann Arbor, MI 48109.
Ryan WelchDepartment of Biostatistics and Center for Statistical Genetics, School of Public Health, University of Michigan, 1415 Washington Heights, Ann Arbor, MI 48109.
Alicia R MartinDepartment of Genetics, Stanford University School of Medicine, 365 Lasuen Street, Littlefield Center MC2069, Stanford, CA 94305.ORCID 0000-0003-0241-3522
Suyash ShringarpureDepartment of Genetics, Stanford University School of Medicine, 365 Lasuen Street, Littlefield Center MC2069, Stanford, CA 94305.
Christopher S CarlsonFred Hutchinson Cancer Center, University of Washington, 1100 Fairview Ave. N., Seattle, WA 98109.
Goncalo AbecasisDepartment of Biostatistics and Center for Statistical Genetics, School of Public Health, University of Michigan, 1415 Washington Heights, Ann Arbor, MI 48109.
Hyun Min KangDepartment of Biostatistics and Center for Statistical Genetics, School of Public Health, University of Michigan, 1415 Washington Heights, Ann Arbor, MI 48109.
Michael BoehnkeDepartment of Biostatistics and Center for Statistical Genetics, School of Public Health, University of Michigan, 1415 Washington Heights, Ann Arbor, MI 48109.
Carlos D BustamanteDepartment of Genetics, Stanford University School of Medicine, 365 Lasuen Street, Littlefield Center MC2069, Stanford, CA 94305.
Christopher R GignouxDepartment of Genetics, Stanford University School of Medicine, 365 Lasuen Street, Littlefield Center MC2069, Stanford, CA 94305 chris.gignoux@ucdenver.edu eimear.kenny@mssm.edu.ORCID 0000-0001-9728-6567
Eimear E KennyDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Place, New York, NY 10029 chris.gignoux@ucdenver.edu eimear.kenny@mssm.edu.ORCID 0000-0001-9198-759X

Funding

INSTITUTIONAL TRAINING GRANT IN GENOME SCIENCET32HG000044 · NHGRI · STANFORD UNIVERSITY · PI MICHAEL P. SNYDER · 1995 to 2026
$32.2M
GENETICS TRAINING PROGRAM FOR PHD CANDIDATEST32GM007790 · NIGMS · STANFORD UNIVERSITY · PI BRUNET, ANNE, KINGSLEY, DAVID M · 1985 to 2020
$12.8M
Identifying Genes for Type 2 Diabetes: FUSIONU01DK062370 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOEHNKE, MICHAEL L, SCOTT, LAURA J. · 2009 to 2021
$11.6M
DESIGN AND ANALYSIS OF HUMAN GENE MAPPING STUDIESR01HG000376 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOEHNKE, MICHAEL L · 1993 to 2016
$5.5M
Optimizing imputation for diverse populations in a distributed frameworkU01HG009080 · NHGRI · STANFORD UNIVERSITY · PI KENNY, EIMEAR ELIZABETH · 2016 to 2020
$5.2M
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
Design and Analysis of Human Gene Mapping StudiesR01HG009976 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOEHNKE, MICHAEL L · 2018 to 2022
$2.5M
Transforming Genomics with 5 PB Big Omics Data Engine Cray CS300-AC SupercomputerS10OD018522 · OD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOVATCH, PATRICIA · 2014 to 2014
$1.9M
COMPUTATIONAL METHODS FOR PROTEOMIC ANALYSISK22HG000044 · NHGRI · UNIVERSITY OF UTAH · PI GIDDINGS, MORGAN CORINNE · 2000 to 2005
$1.3M
NHGRI NIH HHS K22 HG000044NHGRI NIH HHS R01 HG000376NHGRI NIH HHS R01 HG009976NHGRI NIH HHS T32 HG000044NHGRI NIH HHS U01 HG007376NHGRI NIH HHS U01 HG007417NHGRI NIH HHS U01 HG007419NHGRI NIH HHS U01 HG009080NIDDK NIH HHS U01 DK062370NIGMS NIH HHS T32 GM007790NIH HHS S10 OD018522
6 · The paper itself

Abstract

The emergence of very large cohorts in genomic research has facilitated a focus on genotype-imputation strategies to power rare variant association. These strategies have benefited from improvements in imputation methods and association tests, however little attention has been paid to ways in which array design can increase rare variant association power. Therefore, we developed a novel framework to select tag SNPs using the reference panel of 26 populations from Phase 3 of the 1000 Genomes Project. We evaluate tag SNP performance

Indexed as

Genetic Association StudiesGenetics, PopulationPolymorphism, Single NucleotideSelection, GeneticComputational BiologyDatabases, Nucleic AcidEthnicityGenome-Wide Association StudyHumansLinkage DisequilibriumModels, GeneticReproducibility of Resultsarray designGenomicsImputationStatistical Geneticstag SNPs

Identifiers

PMID30131328
PMCPMC6169386

What OpenQuestion holds

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Read underepoch 390

Registered trials

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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.