A Multi-Omics Common Data Model for Primary Immunodeficiencies

Mélanie Buy; William Digan; Xiaoyi Chen; Julien Husson; Mickael Ménager; Frédéric Rieux-Laucat; Nicolas Garcelon

doi:10.3233/SHTI220031

A Multi-Omics Common Data Model for Primary Immunodeficiencies

Mélanie Buy
, William Digan
, Xiaoyi Chen
, Julien Husson
, Mickael Ménager
, Frédéric Rieux-Laucat
, Nicolas Garcelon

Research output: Chapter in Book/Report/Conference proceeding › Conference contribution

3 Scopus citations

Abstract

Primary Immunodeficiencies (PIDs) are associated with more than 400 rare monogenic diseases affecting various biological functions (e.g., development, regulation of the immune response) with a heterogeneous clinical expression (from no symptom to severe manifestations). To better understand PIDs, the ATRACTion project aims to perform a multi-omics analysis of PIDs cases versus a control group patients, including single-cell transcriptomics, epigenetics, proteomics, metabolomics, metagenomics and lipidomics. In this study, our goal is to develop a common data model integrating clinical and omics data, which can be used to obtain standardized information necessary for characterization of PIDs patients and for further systematic analysis. For that purpose, we extend the OMOP Common Data Model (CDM) and propose a multi-omics ATRACTion OMOP-CDM to integrate multi-omics data. This model, available for the community, is customizable for other types of rare diseases (https://framagit.org/imagine-plateforme-bdd/pub-rhu4-atraction).

Original language	English (US)
Title of host publication	MEDINFO 2021
Subtitle of host publication	One World, One Health - Global Partnership for Digital Innovation - Proceedings of the 18th World Congress on Medical and Health Informatics
Editors	Paula Otero, Philip Scott, Susan Z. Martin, Elaine Huesing
Publisher	IOS Press BV
Pages	56-60
Number of pages	5
ISBN (Electronic)	9781643682648
DOIs	https://doi.org/10.3233/SHTI220031
State	Published - Jun 6 2022
Externally published	Yes
Event	18th World Congress on Medical and Health Informatics: One World, One Health - Global Partnership for Digital Innovation, MEDINFO 2021 - Virtual, Online Duration: Oct 2 2021 → Oct 4 2021

Publication series

Name	Studies in Health Technology and Informatics
Volume	290
ISSN (Print)	0926-9630
ISSN (Electronic)	1879-8365

Conference

Conference	18th World Congress on Medical and Health Informatics: One World, One Health - Global Partnership for Digital Innovation, MEDINFO 2021
City	Virtual, Online
Period	10/2/21 → 10/4/21

Bibliographical note

Publisher Copyright:
© 2022 International Medical Informatics Association (IMIA) and IOS Press.

Keywords

Cohort Studies
Databases
rare diseases

Publisher link

10.3233/SHTI220031

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Cite this

Buy, M., Digan, W., Chen, X., Husson, J., Ménager, M., Rieux-Laucat, F., & Garcelon, N. (2022). A Multi-Omics Common Data Model for Primary Immunodeficiencies. In P. Otero, P. Scott, S. Z. Martin, & E. Huesing (Eds.), MEDINFO 2021: One World, One Health - Global Partnership for Digital Innovation - Proceedings of the 18th World Congress on Medical and Health Informatics (pp. 56-60). (Studies in Health Technology and Informatics; Vol. 290). IOS Press BV. https://doi.org/10.3233/SHTI220031

A Multi-Omics Common Data Model for Primary Immunodeficiencies. / Buy, Mélanie; Digan, William; Chen, Xiaoyi et al.
MEDINFO 2021: One World, One Health - Global Partnership for Digital Innovation - Proceedings of the 18th World Congress on Medical and Health Informatics. ed. / Paula Otero; Philip Scott; Susan Z. Martin; Elaine Huesing. IOS Press BV, 2022. p. 56-60 (Studies in Health Technology and Informatics; Vol. 290).

Research output: Chapter in Book/Report/Conference proceeding › Conference contribution

Buy, M, Digan, W, Chen, X, Husson, J, Ménager, M, Rieux-Laucat, F & Garcelon, N 2022, A Multi-Omics Common Data Model for Primary Immunodeficiencies. in P Otero, P Scott, SZ Martin & E Huesing (eds), MEDINFO 2021: One World, One Health - Global Partnership for Digital Innovation - Proceedings of the 18th World Congress on Medical and Health Informatics. Studies in Health Technology and Informatics, vol. 290, IOS Press BV, pp. 56-60, 18th World Congress on Medical and Health Informatics: One World, One Health - Global Partnership for Digital Innovation, MEDINFO 2021, Virtual, Online, 10/2/21. https://doi.org/10.3233/SHTI220031

Buy M, Digan W, Chen X, Husson J, Ménager M, Rieux-Laucat F et al. A Multi-Omics Common Data Model for Primary Immunodeficiencies. In Otero P, Scott P, Martin SZ, Huesing E, editors, MEDINFO 2021: One World, One Health - Global Partnership for Digital Innovation - Proceedings of the 18th World Congress on Medical and Health Informatics. IOS Press BV. 2022. p. 56-60. (Studies in Health Technology and Informatics). doi: 10.3233/SHTI220031

Buy, Mélanie ; Digan, William ; Chen, Xiaoyi et al. / A Multi-Omics Common Data Model for Primary Immunodeficiencies. MEDINFO 2021: One World, One Health - Global Partnership for Digital Innovation - Proceedings of the 18th World Congress on Medical and Health Informatics. editor / Paula Otero ; Philip Scott ; Susan Z. Martin ; Elaine Huesing. IOS Press BV, 2022. pp. 56-60 (Studies in Health Technology and Informatics).

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A Multi-Omics Common Data Model for Primary Immunodeficiencies

Abstract

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Bibliographical note

Keywords

Publisher link

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