Evidence map›Paper›PMID 23989082›Full record

ArticleJournal of the American Medical Informatics Association : JAMIA

PhenDisco: phenotype discovery system for the database of genotypes and phenotypes.

Son Doan, Ko-Wei Lin, Mike Conway, Lucila Ohno-Machado, Alex Hsieh, Stephanie Feudjio Feupe, Asher Garland, Mindy K Ross, Xiaoqian Jiang, Seena Farzaneh and 5 more

Abstract read
In one paragraph

Article in Journal of the American Medical Informatics Association : JAMIA. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–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

6 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
  4. DataMed - an open source discovery index for finding biomedical datasets.Journal of the American Medical Informatics Association : JAMIA · 2018
    Article
  5. Article
  6. Improving average ranking precision in user searches for biomedical research datasets.Database : the journal of biological databases and curation · 2017
    Article
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

15 authors.

Son DoanDivision of Biomedical Informatics, University of California San Diego, La Jolla, California, USA.
Ko-Wei Lin
Mike Conway
Lucila Ohno-Machado
Alex Hsieh
Stephanie Feudjio Feupe
Asher Garland
Mindy K Ross
Xiaoqian Jiang
Seena Farzaneh
Rebecca Walker
Neda Alipanah
Jing Zhang
Hua Xu
Hyeon-Eui Kim

Funding

iDASH: Integrating Data for Analysis, Anonymization, and SharingU54HL108460 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI OHNO-MACHADO, LUCILA · 2010 to 2015
$19.1M
San Diego Biomedical Informatics Education & Research (SABER)T15LM011271 · NLM · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI SHAMIM NEMATI · 2012 to 2026
$9.7M
Phenotype Discovery in NHLBI Genomic Studies (PhD)UH2HL108785 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI OHNO-MACHADO, LUCILA · 2011 to 2012
$1.1M
Phenotype Discovery in NHLBI Genomic Studies (PhD)UH3HL108785 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI KIM, HYEON-EUI · 2013 to 2013
$500k
NHLBI NIH HHS U54 HL108460NHLBI NIH HHS U54HL108460NHLBI NIH HHS UH2 HL108785NHLBI NIH HHS UH2HL108785NLM NIH HHS T15 LM011271NLM NIH HHS T15LM011271
6 · The paper itself

Abstract

The database of genotypes and phenotypes (dbGaP) developed by the National Center for Biotechnology Information (NCBI) is a resource that contains information on various genome-wide association studies (GWAS) and is currently available via NCBI's dbGaP Entrez interface. The database is an important resource, providing GWAS data that can be used for new exploratory research or cross-study validation by authorized users. However, finding studies relevant to a particular phenotype of interest is challenging, as phenotype information is presented in a non-standardized way. To address this issue, we developed PhenDisco (phenotype discoverer), a new information retrieval system for dbGaP. PhenDisco consists of two main components: (1) text processing tools that standardize phenotype variables and study metadata, and (2) information retrieval tools that support queries from users and return ranked results. In a preliminary comparison involving 18 search scenarios, PhenDisco showed promising performance for both unranked and ranked search comparisons with dbGaP's search engine Entrez. The system can be accessed at http://pfindr.net.

Indexed as

AlgorithmsDatabases, GeneticInformation SystemsPhenotypeGenome-Wide Association StudyGenotypeHumansSubject HeadingsDBGAPGWASInformation RetrievalNatural Language ProcessingPhenotype StandardizationText Mining

Identifiers

PMID23989082
PMCPMC3912702

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.