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Genomics in Health and Disease

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: 1

DOI: https://doi.org/10.59646/978-81-69297-97-4_1

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

Abstract

Genome biology forms the foundation of modern molecular diagnostics by explaining how genetic information is stored, expressed, and translated into functional outcomes in health and disease. The structure and function of DNA, RNA, and proteins are central to understanding the flow of genetic information through the central dogma and the regulation of gene expression. Chromosomal organization and mutations, including structural and numerical abnormalities, play significant roles in disease development and diagnosis. Genetic polymorphisms contribute to human variation and are widely used in identity profiling and population studies. Together, these concepts support the advancement of precision medicine, enabling more accurate diagnosis, risk assessment, and personalized treatment strategies in modern healthcare.

Keywords: Genome biology; Gene expression; Chromosomal mutations; DNA polymorphism; Pharmacogenomics; Precision medicine.

References

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