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Genome Analysis: Techniques for Resolution and Detection

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: 2

DOI: https://doi.org/10.59646/978-81-69297-97-4_2

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

Abstract

Genome analysis in molecular diagnostics has evolved significantly, enabling precise detection and interpretation of genetic variations for clinical applications. The chapter explores genome resolution, highlighting advancements from chromosomal-level analysis to single nucleotide polymorphism detection through integrated technologies. Core methodologies such as polymerase chain reaction (PCR), including real-time, ARMS, and multiplex PCR, are examined for their sensitivity and specificity in amplifying and identifying genetic material. Advanced techniques such as fluorescence in situ hybridization (FISH), sequencing technologies, and microarray platforms are discussed for their roles in detecting structural and functional genomic changes. Mutation detection methods, including RFLP, DHPLC, DGGE, and SSCP, are analyzed for their diagnostic relevance. Additionally, high-throughput sequencing and bioinformatics tools are emphasized for data interpretation. These integrated approaches enhance disease diagnosis, therapeutic decision-making, and personalized medicine.

Keywords: Genome analysis, PCR techniques, Mutation detection, Sequencing technologies, Molecular diagnostics, Bioinformatics.

References

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