Publications and Research
Document Type
Book Chapter or Section
Publication Date
5-1-2026
Abstract
Genomics is the study of an organism’s genetic blueprint, encompassing the structure, function, and interactions of DNA regions. This field has revolutionized medicine, agriculture, and our understanding of life, fueled by milestones like the discovery of DNA’s structure and the Human Genome Project. Advances in sequencing technologies, data annotation, and visualization have enabled large-scale genomic studies, with applications spanning transcriptomics, epigenomics, metagenomics, precision medicine, and healthcare. This chapter provides an overview of genomics, explores its applications, and offers a detailed case study on the transcriptomics analysis of a public RNA-seq dataset. Lastly, this chapter explores emerging challenges in genomic research, including ethical implications, the integration of deep learning in genomics, and the need for diverse representation in genomic studies. These considerations are vital for ensuring responsible conduct of research and harnessing the full potential of genomics to improve human health and well-being.
Comments
This chapter manuscript was originally published in Introductory Textbook in Health Informatics, edited by Christina Eldredge, Sue S. Feldman, Mohammad A. Faysel, Arif M. Rana, available at https://doi.org/10.1007/978-3-032-16657-9_17