Evidence map›Paper›PMID 23695286›Full record

ArticleEuropean journal of human genetics : EJHG2014

Phenotype-Genotype Integrator (PheGenI): synthesizing genome-wide association study (GWAS) data with existing genomic resources.

Erin M Ramos, Douglas Hoffman, Heather A Junkins, Donna Maglott, Lon Phan, Stephen T Sherry, Mike Feolo, Lucia A Hindorff

Abstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 134 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
134citing papers in PubMed, 5 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

134 citing papers in PubMed, 5 syntheses or guidelines pooled it.

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  17. Identifying Alzheimer's disease-associated genes using PhenoGeneRanker.bioRxiv : the preprint server for biology · 2024
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74 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

8 authors.

Erin M RamosDivision of Genomic Medicine, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
Douglas HoffmanNational Center for Biotechnology Information, National Library of Medicine, Bethesda, MD, USA.
Heather A JunkinsDivision of Genomic Medicine, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
Donna MaglottNational Center for Biotechnology Information, National Library of Medicine, Bethesda, MD, USA.
Lon PhanNational Center for Biotechnology Information, National Library of Medicine, Bethesda, MD, USA.
Stephen T SherryNational Center for Biotechnology Information, National Library of Medicine, Bethesda, MD, USA.
Mike FeoloNational Center for Biotechnology Information, National Library of Medicine, Bethesda, MD, USA.
Lucia A HindorffDivision of Genomic Medicine, National Human Genome Research Institute, NIH, Bethesda, MD, USA.

Funding

National Biomedical Information ServicesZIHLM200888 · NLM · NATIONAL LIBRARY OF MEDICINE · PI PALTOO, DINA · 2009 to 2025
$5200.7M
Intramural NIH HHS
6 · The paper itself

Abstract

Rapidly accumulating data from genome-wide association studies (GWASs) and other large-scale studies are most useful when synthesized with existing databases. To address this opportunity, we developed the Phenotype-Genotype Integrator (PheGenI), a user-friendly web interface that integrates various National Center for Biotechnology Information (NCBI) genomic databases with association data from the National Human Genome Research Institute GWAS Catalog and supports downloads of search results. Here, we describe the rationale for and development of this resource. Integrating over 66,000 association records with extensive single nucleotide polymorphism (SNP), gene, and expression quantitative trait loci data already available from the NCBI, PheGenI enables deeper investigation and interrogation of SNPs associated with a wide range of traits, facilitating the examination of the relationships between genetic variation and human diseases.

Indexed as

Genome-Wide Association StudyGenotypePhenotypeSoftwareComputational BiologyDatabases, GeneticGenome, HumanGenomicsHumansInternetPolymorphism, Single Nucleotide

Identifiers

PMID23695286
PMCPMC3865418

What OpenQuestion holds

Textmetadata
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.