Un outil de visualisation de classifications et d'intégration de données phénotypiques et génétiques pour faciliter le codage des maladies rares

Rémy Choquet; Yannick Fonjallaz; Albane De Carrara; Meriem Maaroufi; Pierre Yves Vandenbussche; Ferdinand Dhombres; Paul Landais

Un outil de visualisation de classifications et d'intégration de données phénotypiques et génétiques pour faciliter le codage des maladies rares

Translated title of the contribution: Coding rare diseases in health information systems: A tool for visualizing classifications and integrating phenotypic and genetic data

Rémy Choquet, Yannick Fonjallaz, Albane De Carrara, Meriem Maaroufi, Pierre Yves Vandenbussche, Ferdinand Dhombres, Paul Landais

Research output: Contribution to journal › Conference article › peer-review

Abstract

Establishing the diagnosis and coding for a rare disease (RD) needs to characterize multiple information including patient's phenotype and genotype. A major barrier to coding is a lack of consolidation of such information, scattered in several resources such as Orphanet, OMIM or HPO. We developed a web portal, Linking Open data for RD (LORD), offering an integrated view of 8,336 RDs linked to more than 12,500 signs and 3,000 genes. It allows navigating through the relationships between diseases, signs and genes, and provides Application Programming Interfaces for its integration in information systems (IS). LORD is dedicated to the 131 French RD reference centers and 501 competence centers, for coding RD diagnoses in the health IS.

Translated title of the contribution	Coding rare diseases in health information systems: A tool for visualizing classifications and integrating phenotypic and genetic data
Original language	French
Pages (from-to)	198-203
Number of pages	6
Journal	CEUR Workshop Proceedings
Volume	1379
Issue number	January
State	Published - 2014
Externally published	Yes
Event	15th Francophone Medical Informatics Conference, JFIM 2014 - Fes, Morocco Duration: Jun 12 2014 → Jun 13 2014

Keywords

Big data
Coding support
Medical informatics
Rare diseases ontologies
Semantic web
Web services

Cite this

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title = "Un outil de visualisation de classifications et d'int{\'e}gration de donn{\'e}es ph{\'e}notypiques et g{\'e}n{\'e}tiques pour faciliter le codage des maladies rares",

abstract = "Establishing the diagnosis and coding for a rare disease (RD) needs to characterize multiple information including patient's phenotype and genotype. A major barrier to coding is a lack of consolidation of such information, scattered in several resources such as Orphanet, OMIM or HPO. We developed a web portal, Linking Open data for RD (LORD), offering an integrated view of 8,336 RDs linked to more than 12,500 signs and 3,000 genes. It allows navigating through the relationships between diseases, signs and genes, and provides Application Programming Interfaces for its integration in information systems (IS). LORD is dedicated to the 131 French RD reference centers and 501 competence centers, for coding RD diagnoses in the health IS.",

keywords = "Big data, Coding support, Medical informatics, Rare diseases ontologies, Semantic web, Web services",

author = "R{\'e}my Choquet and Yannick Fonjallaz and {De Carrara}, Albane and Meriem Maaroufi and Vandenbussche, {Pierre Yves} and Ferdinand Dhombres and Paul Landais",

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year = "2014",

language = "Franc{\'e}s",

volume = "1379",

pages = "198--203",

journal = "CEUR Workshop Proceedings",

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T1 - Un outil de visualisation de classifications et d'intégration de données phénotypiques et génétiques pour faciliter le codage des maladies rares

AU - Choquet, Rémy

AU - Fonjallaz, Yannick

AU - De Carrara, Albane

AU - Maaroufi, Meriem

AU - Vandenbussche, Pierre Yves

AU - Dhombres, Ferdinand

AU - Landais, Paul

PY - 2014

Y1 - 2014

N2 - Establishing the diagnosis and coding for a rare disease (RD) needs to characterize multiple information including patient's phenotype and genotype. A major barrier to coding is a lack of consolidation of such information, scattered in several resources such as Orphanet, OMIM or HPO. We developed a web portal, Linking Open data for RD (LORD), offering an integrated view of 8,336 RDs linked to more than 12,500 signs and 3,000 genes. It allows navigating through the relationships between diseases, signs and genes, and provides Application Programming Interfaces for its integration in information systems (IS). LORD is dedicated to the 131 French RD reference centers and 501 competence centers, for coding RD diagnoses in the health IS.

AB - Establishing the diagnosis and coding for a rare disease (RD) needs to characterize multiple information including patient's phenotype and genotype. A major barrier to coding is a lack of consolidation of such information, scattered in several resources such as Orphanet, OMIM or HPO. We developed a web portal, Linking Open data for RD (LORD), offering an integrated view of 8,336 RDs linked to more than 12,500 signs and 3,000 genes. It allows navigating through the relationships between diseases, signs and genes, and provides Application Programming Interfaces for its integration in information systems (IS). LORD is dedicated to the 131 French RD reference centers and 501 competence centers, for coding RD diagnoses in the health IS.

KW - Big data

KW - Coding support

KW - Medical informatics

KW - Rare diseases ontologies

KW - Semantic web

KW - Web services

UR - http://www.scopus.com/inward/record.url?scp=84937152441&partnerID=8YFLogxK

M3 - Artículo de la conferencia

AN - SCOPUS:84937152441

SN - 1613-0073

VL - 1379

SP - 198

EP - 203

JO - CEUR Workshop Proceedings

JF - CEUR Workshop Proceedings

IS - January

T2 - 15th Francophone Medical Informatics Conference, JFIM 2014

Y2 - 12 June 2014 through 13 June 2014

ER -

Un outil de visualisation de classifications et d'intégration de données phénotypiques et génétiques pour faciliter le codage des maladies rares

Abstract

Keywords

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