DEVELOPMENT OF NOVEL GENOMIC DATA ANALYSIS TECHNIQUES IN SAUDI ARABIAN MEDICAL LABORATORIES

Genomic data analysis is, indeed, a transformative factor for personalized medicine and precision diagnostics. This research undertakes the study of the adoption and performance of advanced genomic analysis techniques, including AI models, in 160 medical labs across six regions in Saudi Arabia. Survey data and statistical analysis (SPSS) were employed to assess: the impact of AI on diagnostic accuracy; the assessment of execution efficiency in WGS/RNA-seq pipelines; and regional variations, governance of data, and readiness from an ethical point of view. The results demonstrated that AI methods greatly improve diagnostic accuracy (p < 0.001) and that deep learning models reduce execution time (p = 0.0086). However, inconsistencies in data sharing, privacy, and ethical approval practices call for a standardized framework. The study highlights the progress being made in Saudi Arabia toward genomics-enabled healthcare while identifying operational and regulatory issues to be addressed for the realization of the Vision 2030 project.

Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2025-04-01
DOI
https://doi.org/10.5281/zenodo.17777287
Primary Topic
Genomics and Rare Diseases
Type
article
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article

DEVELOPMENT OF NOVEL GENOMIC DATA ANALYSIS TECHNIQUES IN SAUDI ARABIAN MEDICAL LABORATORIES

Zenodo (CERN European Organization for Nuclear Research)
Genomics and Rare Diseases
article

DEVELOPMENT OF NOVEL GENOMIC DATA ANALYSIS TECHNIQUES IN SAUDI ARABIAN MEDICAL LABORATORIES

article en

Abstract

Genomic data analysis is, indeed, a transformative factor for personalized medicine and precision diagnostics. This research undertakes the study of the adoption and performance of advanced genomic analysis techniques, including AI models, in 160 medical labs across six regions in Saudi Arabia. Survey data and statistical analysis (SPSS) were employed to assess: the impact of AI on diagnostic accuracy; the assessment of execution efficiency in WGS/RNA-seq pipelines; and regional variations, governance of data, and readiness from an ethical point of view. The results demonstrated that AI methods greatly improve diagnostic accuracy (p < 0.001) and that deep learning models reduce execution time (p = 0.0086). However, inconsistencies in data sharing, privacy, and ethical approval practices call for a standardized framework. The study highlights the progress being made in Saudi Arabia toward genomics-enabled healthcare while identifying operational and regulatory issues to be addressed for the realization of the Vision 2030 project.

Zenodo (CERN European Organization for Nuclear Research)
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Openalex Percentile: Top 30%
Genomics and Rare Diseases
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