La Trobe

File(s) stored somewhere else

Please note: Linked content is NOT stored on La Trobe and we can't guarantee its availability, quality, security or accept any liability.

GENE2D: a NoSQL integrated data repository of genetic disorders data

journal contribution
posted on 17.12.2020, 05:18 by Halima Edris Samra, Alice Li, Boon Soh
There are few sources from which to obtain clinical and genetic data for use in research in Saudi Arabia. Numerous obstacles led to the difficulty of integrating these data from silos and scattered sources to provide standardized access to large data sets for patients with common health conditions. To this end, we sought to contribute to this area and offer a practical and easy-to-implement solution. In this paper, we aim to design and implement a “not only SQL” (NoSQL) based integration framework to generate an Integrated Data Repository of Genetic Disorders Data (GENE2D) to integrate data from various genetic clinics and research centers in Saudi Arabia and provide an easy-to-use query interface for researchers to conduct their studies on large datasets. The major components involved in the GENE2D architecture consists of the data sources, the integrated data repository (IDR) as a central database, and the application interface. The IDR uses a NoSQL document store via MongoDB (an open source document-oriented database program) as a backend database. The application interface called Query Builder provides multiple services for data retrieval from the database using a custom query to answer simple or complex research questions. The GENE2D system demonstrates its potential to help grow and develop a national genetic disorders database in Saudi Arabia.

History

Publication Date

06/08/2020

Journal

Healthcare

Volume

8

Issue

3

Article Number

257

Pagination

22p. (p. 1-22)

Publisher

MDPI AG

ISSN

2227-9032

Rights Statement

The Author reserves all moral rights over the deposited text and must be credited if any re-use occurs. Documents deposited in OPAL are the Open Access versions of outputs published elsewhere. Changes resulting from the publishing process may therefore not be reflected in this document. The final published version may be obtained via the publisher’s DOI. Please note that additional copyright and access restrictions may apply to the published version.