@inbook{2985f59822a141fcae4071c3b066d413,
title = "Genome Studies and Disease Diagnosis",
abstract = "The field of genomics has revolutionized our understanding of biological systems. Next-generation sequencing (NGS) and deep sequencing technology enable the identification of millions of base pairs in hours. Machine learning technologies can analyze big genomic datasets and discover new gene functions. Artificial neural networks are mathematical models used in various fields, such as genomics, proteomics, metabolomics, and biology, to tackle artificial intelligence (AI) engineering challenges. AI presents a transformative approach to expedite and simplify genome interpretation, particularly in the diagnosis of rare genetic disorders. The field of genomics has undergone a transformative revolution due to the synergistic application of high-throughput sequencing technologies and AI for data analysis. This convergence offers remarkable potential for advancing our comprehension of human health and disease. By facilitating more precise diagnoses and the development of targeted therapies, these combined approaches pave the way for the future of personalized medicine.",
keywords = "Biological systems, Engineering challenges, Sequencing technology",
author = "Muhammad Naveed and Sarmad Mahmood and Al-Khayri, \{Jameel M.\} and Arooj Azeema and Zainab Batool and Furrmein Fatima and Imran Ali and Muhammad Majeed and Aditya Khamparia",
note = "Publisher Copyright: {\textcopyright} The Author(s), under exclusive license to Springer Nature Singapore Pte Ltd. 2025.",
year = "2025",
doi = "10.1007/978-981-96-3448-4\_13",
language = "English (US)",
series = "Microorganisms for Sustainability",
publisher = "Springer",
pages = "267--299",
booktitle = "Microorganisms for Sustainability",
address = "Germany",
}
