Advanced Sequencing Technologies: Principles, Bioinformatics Workflows, Artificial Intelligence, and Clinical Applications

Advanced Sequencing Technologies: Principles, Bioinformatics Workflows, Artificial Intelligence, and Clinical Applications provides a clear and comprehensive introduction to modern DNA and RNA sequencing. The book explains how sequencing technologies evolved, how biological samples are prepared, how sequence data are analyzed, and how genomic information is applied in research, medicine, agriculture, and environmental science.

The book begins with the molecular foundations of genetic information and the historical development of DNA sequencing. It then examines first-generation sequencing, short-read next-generation sequencing, long-read sequencing, single-molecule real-time sequencing, and nanopore sequencing. The strengths, limitations, error patterns, and suitable applications of each technology are explained in an accessible academic style.

Readers are guided through essential experimental procedures, including sample collection, nucleic-acid extraction, library preparation, adapter ligation, indexing, amplification, size selection, target enrichment, and quality assessment. The bioinformatics sections cover FASTQ, FASTA, BAM, CRAM, and VCF formats, sequencing quality control, read alignment, genome assembly, variant detection, transcriptomics, single-cell RNA sequencing, spatial transcriptomics, and reproducible computational workflows.

The book also introduces the growing role of artificial intelligence and machine learning in base calling, error correction, variant classification, biomarker discovery, cell-type annotation, and clinical prediction. Additional chapters discuss multi-omics integration, cloud computing, workflow automation, data management, genomic privacy, and responsible use of artificial intelligence.

Practical applications include rare-disease diagnosis, cancer genomics, pathogen surveillance, antimicrobial resistance, pharmacogenomics, microbiome research, agricultural genomics, environmental DNA analysis, and precision medicine.

Designed for students, researchers, bioinformaticians, molecular biologists, healthcare professionals, and biotechnology specialists, this book connects sequencing chemistry with experimental design, computational analysis, biological interpretation, and ethical responsibility. It serves as both an educational resource and a practical reference for understanding current and emerging sequencing technologies.