Mapping clinical phenotype data elements to standardized metadata repositories and controlled terminologies: the eMERGE Network experience (Q33906590)

29 July 2017

title

Mapping clinical phenotype data elements to standardized metadata repositories and controlled terminologies: the eMERGE Network experience (English)

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29 July 2017

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1

Jyotishman Pathak

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29 July 2017

7

Christopher G Chute

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29 July 2017

Janey Wang

2

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29 July 2017

Sudha Kashyap

3

1 reference

29 July 2017

Melissa Basford

4

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29 July 2017

Rongling Li

5

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29 July 2017

Daniel R Masys

6

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29 July 2017

language of work or name

1 reference

19 May 2011

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Journal of the American Medical Informatics Association

29 July 2017

published in

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29 July 2017

volume

18

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29 July 2017

issue

4

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29 July 2017

page(s)

376-386

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Evaluating Phenotypic Data Elements for Genetics and Epidemiological Research: Experiences from the eMERGE and PhenX Network Projects.

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128396

Creating mappings for ontologies in biomedicine: simple methods work.

5 July 2018

1 reference

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PhenX: a toolkit for interdisciplinary genetics research

5 July 2018

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Representing the NCI Thesaurus in OWL DL: Modeling tools help modeling languages

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128396

BioPortal: ontologies and integrated data resources at the click of a mouse

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128396

Why do it the hard way? The case for an expressive description logic for SNOMED

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128396

Comparing heterogeneous SNOMED CT coding of clinical research concepts by examining normalized expressions

5 July 2018

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The NCBI dbGaP database of genotypes and phenotypes

5 July 2018

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Data standards in clinical research: gaps, overlaps, challenges and future directions

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128396

Mapping data elements to terminological resources for integrating biomedical data sources

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128396

Interface terminologies: facilitating direct entry of clinical data into electronic health record systems

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128396

Development and evaluation of methods for structured recording of heart murmur findings using SNOMED-CT post-coordination

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128396

The human phenome project

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128396

Learning to match ontologies on the Semantic Web

5 July 2018

1 reference

https://api.crossref.org/works/10.1136%2FAMIAJNL-2010-000061

Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FAMIAJNL-2010-000061

What Four Million Mappings Can Tell You about Two Hundred Ontologies

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FAMIAJNL-2010-000061

21 January 2018

Precoordination or not?

1 reference

https://api.crossref.org/works/10.1136%2FAMIAJNL-2010-000061

Definitions and qualifiers in SNOMED CT

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21597104

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/AMIAJNL-2010-000061

1 reference

journals/jamia/PathakWKBLMC11

29 July 2017

DBLP publication ID

1 reference

DBLP Dataset 2021-01-02

28 January 2021

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29 July 2017

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