Evidence map›Paper›PMID 17701901›Full record

ArticleAmerican journal of human genetics2007

PLINK: a tool set for whole-genome association and population-based linkage analyses.

Shaun Purcell, Benjamin Neale, Kathe Todd-Brown, Lori Thomas, Manuel A R Ferreira, David Bender, Julian Maller, Pamela Sklar, Paul I W de Bakker, Mark J Daly and 1 more

6 registry-linked trialsOpen access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 6 registered trials, which are not on this map. Cited by 20,632 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
20,632citing papers in PubMed, 3 pooled it
337.0field-weighted citation impact, top 1% 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.

NCT01460186 nacompletednot on this mapstarted 2011, after this paper: background citation

Evaluation of the Predictive and Prognostic Value of Germ-line Polymorphisms in Patients With Metastatic Breast Cancer : a Multicenter Non-randomized Prospective Cohort Study

TypeinterventionalSponsorCentre Leon BerardRan2011 to 2017Enrolled1,000ConditionsBreast Cancer, MetastasisArmsBlood sample for genetic analysis (Identification of germ line genetic factors that influence the risk of metastatic breast cancer)
NCT02791880 active not recruitingnot on this mapstarted 2016, after this paper: background citation

Genomic and Biomarker Predictors of Acute Kidney Injury and Other Post-Procedural Outcomes Following Transcatheter Aortic Valve Replacement

TypeobservationalSponsorUniversity of Texas Southwestern Medical CenterRan2016 to 2031Enrolled62ConditionsAcute Kidney Injury, Renal Insufficiency, Chronic, Heart Failure, Myocardial InfarctionArmsTranscatheter Aortic Valve Replacement
NCT03766191 nacompletednot on this mapstarted 2019, after this paper: background citation

The Relation of Genetic Factors, Food Cues, and Self-Regulation With Excess Consumption and Adiposity in Children

TypeinterventionalSponsorTrustees of Dartmouth CollegeRan2019 to 2024Enrolled189ConditionsChildhood ObesityArmsFood Ads, Non-food Ads
NCT04154982 phase2completednot on this mapstarted 2020, after this paper: background citation

Cardiac Arrhythmia Catheter Ablation Procedures Guided by x-Ray Imaging: N-Acetylcysteine Protection Against Radiation Induced Cellular damagE (CARAPACE Study)

TypeinterventionalSponsorCentro Cardiologico MonzinoRan2020 to 2024Enrolled181ConditionsCardiac ArrhythmiaArmsAcetyl cysteine
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
NCT06049641 completednot on this mapstarted 2014, after this paper: background citation

Hypertension in High School Students: Genetic and Environmental Factors

TypeobservationalSponsorOspedale San RaffaeleRan2014 to 2018Enrolled2,638ConditionsHypertension in Adolescence, Adolescent Overweight
3 · Its place in the literature

Who cites it

20,632 citing papers in PubMed, 3 syntheses or guidelines pooled it, 35,533 citations in OpenAlex.

  1. Pooled it
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  6. 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
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  8. Germline Variation and Somatic Alterations in Ewing Sarcoma.Methods in molecular biology (Clifton, N.J.) · 2027
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20,572 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

11 authors at 7 institutions in 3 countries.

Shaun PurcellCenter for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA. shaun@pngu.mgh.harvard.edu
Benjamin Neale
Kathe Todd-Brown
Lori Thomas
Manuel A R Ferreira
David Bender
Julian Maller
Pamela Sklar
Paul I W de Bakker
Mark J Daly
Pak C Sham
Massachusetts General Hospital · USBroad Institute · USCenter for Human Genetics · USCenter for Systems Biology · USMassachusetts Institute of Technology · USUniversity of Hong Kong · HKUniversity of London · GB

Funding

VARIANCE COMPONENTS MODELS FOR MAPPING QTLSR01EY012562 · NEI · UNIVERSITY OF COLORADO AT BOULDER · PI HEWITT, JOHN K · 1999 to 2006
$2.1M
A Unified System for Genome-Wide Association AnalysisU01HG004171 · NHGRI · MASSACHUSETTS GENERAL HOSPITAL · PI DALY, MARK JOSEPH · 2006 to 2008
$1.0M
Gene-environment interaction in association analysisR03MH073806 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI PURCELL, SHAUN M · 2006 to 2007
$172k
NEI NIH HHS EY-12562NEI NIH HHS R01 EY012562NHGRI NIH HHS U01 HG004171NIMH NIH HHS R03 MH073806NIMH NIH HHS R03 MH73806-01A1
6 · The paper itself

Abstract

Whole-genome association studies (WGAS) bring new computational, as well as analytic, challenges to researchers. Many existing genetic-analysis tools are not designed to handle such large data sets in a convenient manner and do not necessarily exploit the new opportunities that whole-genome data bring. To address these issues, we developed PLINK, an open-source C/C++ WGAS tool set. With PLINK, large data sets comprising hundreds of thousands of markers genotyped for thousands of individuals can be rapidly manipulated and analyzed in their entirety. As well as providing tools to make the basic analytic steps computationally efficient, PLINK also supports some novel approaches to whole-genome data that take advantage of whole-genome coverage. We introduce PLINK and describe the five main domains of function: data management, summary statistics, population stratification, association analysis, and identity-by-descent estimation. In particular, we focus on the estimation and use of identity-by-state and identity-by-descent information in the context of population-based whole-genome studies. This information can be used to detect and correct for population stratification and to identify extended chromosomal segments that are shared identical by descent between very distantly related individuals. Analysis of the patterns of segmental sharing has the potential to map disease loci that contain multiple rare variants in a population-based linkage analysis.

Indexed as

SoftwareGenetic LinkageGenome, HumanHumansPolymorphism, Single NucleotidePopulation

Identifiers

PMID17701901
PMCPMC1950838
OpenAlexW2161633633

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.