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Artificial Intelligence Application in Molecular Diagnostics

Book Title: Molecular Diagnostics and Genomic Medicine: Transforming Healthcare with AI

Editors: Dr. Alok Kumar Srivastav, Dr. Priyanka Das, Dr. Babasaheb Ghodke, and Dr. Nikita Pathak

Chapter: 10

DOI: https://doi.org/10.59646/978-81-69297-97-4_10

Authors: Alok Kumar Srivastav, Priyanka Das, Nikita Pathak, and Babasaheb Ghodke

Abstract

Artificial intelligence (AI) is transforming molecular diagnostics by enabling efficient analysis of complex genomic and clinical data for improved diagnostic accuracy and personalized healthcare. The chapter explores the application of machine learning in genomic data interpretation, including variant classification, pattern recognition, and multi-omics integration. AI-driven approaches enhance variant detection in sequencing data, particularly for structural variations and low-frequency mutations. The integration of AI with established technologies such as real-time PCR, microarrays, and metabolomics improves data interpretation, quality control, and biomarker discovery. AI also supports rapid microbial identification and antimicrobial resistance prediction, contributing to effective clinical decision-making. In oncology, AI facilitates mutation detection, tumor profiling, and therapy response prediction, advancing precision medicine. Additionally, workflow automation and integration with bioinformatics tools optimize laboratory efficiency. Ethical and regulatory considerations, including data privacy and algorithm validation, are emphasized to ensure safe implementation.

Keywords: Artificial intelligence, Machine learning, Genomic analysis, Variant detection, Precision medicine, Bioinformatics.

References

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