Artificial Intelligence in Genomics

Khalid Shaikh is the founder and CEO of Prognica Labs, a healthtech company. Prognica Labs is focused on revolutionizing the healthcare sector through artificial intelligence and advanced analytics, particularly in the early detection of diseases. His work is centered around leveraging technology to improve patient outcomes, reduce healthcare costs, and make advanced diagnostic tools more accessible to a broader population. Khalid Shaikh is serial entrepreneur, researcher, author, and business strategist. He is also a member of HBR Advisory Council and has received numerous awards for his innovations and contribution in healthcare and public health. In addition to his professional commitments, he also gives back to the aspiring entrepreneur community by serving as an advisor and mentor. He has published and lectured extensively on healthcare performance improvement, digitalization, and innovation.Dr. Rohit Thanki is an expert in Artificial Intelligence, Medical Informatics, and Digital Health with experience in enterprise AI and Healthcare AI in India, the Middle East, and Germany. Previously, he served in a senior leadership role at KRiAN GmbH, where he developed CE-certified Software as a Medical Device (SaMD) for medical diagnostics and rehabilitation. He was also Head of Research & Development at Prognica Labs in Dubai, focusing on AI-driven breast cancer screening solutions. Dr. Thanki holds a Ph.D. in Electronics and Communication Engineering from C. U. Shah University, India, with research on privacy-preserving multibiometric systems. He also has bachelor's and master's degrees in Electronics and Communication Engineering. His research interests include explainable AI for healthcare, medical imaging, biomedical signal processing, multimodal and generative AI systems, and regulatory-compliant clinical AI agents. He has contributed to the development of AI systems covering X-ray, CT, MRI, ultrasound, mammography, histopathology, and physiological data analysis.Dr. Thanki has taught courses in image processing, signal processing, communication systems, and VLSI as an Assistant Professor and Visiting Lecturer in India. He serves on Ph.D. examination boards and supervises postgraduate research in both India and Germany. He has published over 110 Scopus-indexed articles and 20 scholarly books, with more than 1,700 citations and a strong h-index. Dr. Thanki is a Senior Member of IEEE, an editorial board member for BMC Digital Health and PLOS One, and an active peer reviewer for leading journals.Dr. Sejal Shah is currently serving as the Head & Associate Professor for the Department of Bioinformatics, Faculty of Engineering and Technology, Marwadi University, Rajkot. She is also serving as a Cancer Geneticist at various multispecialty hospitals in Rajkot, Gujarat. She is a visiting faculty member at IIIT Diu International Campus and Saurashtra University. She has been selected as one of the top 10 women scientists and awarded the Indo-US women in STEMM fellowship (2019) by DST, Government of India, and IUSSTF, jointly, to pursue postdoctoral research in the USA. She joined the Ohio State University to conduct research on pediatric leukemia. She was selected among 15 women scientists from across India by the DST, KIRAN division, for cancer research training held at Mysore University, Mysore, in 2018. She was also awarded the “Woman Scientist Fellow” in May 2012 under the Women Scientist Scheme-A (DST/WOS-A) of the Department of Science and Technology, New Delhi, Government of India. She has 12 years of research experience in cancer omics, biotechnology, and nanotechnology. During this period, she has been involved in teaching and cancer research. She has 8 years of teaching experience as well as industrial experience at RK University, SunPharma Baroda, and PERD centre, Ahmedabad. She and her team are currently working on oral cancer, cervical cancer, and breast cancer. She is an associate member of the American Association for Cancer Research (AACR), a life member of the European Association for Cancer Research (EACR), a scientific decoder at the COVID-19 Omics Research Consortium (CORC), and a member of the Breast Cancer Research Consortium (BCRC). She has six Indian patents to her credit. She has more than 25 publications, 8 book chapters, and 8 research projects to her credit, funded by various agencies. She is also a reviewer for various national/international journals.

• Introduction.- Genomics in the Age of Artificial Intelligence.- Data Foundations: Sequencing, Multi-Omics, and Data Quality.- Classical Machine Learning Methods in Genomics.- Deep Learning Architectures for Genomic Sequences and Structures.- Graph Neural Networks and Biological Networks.- Self-Supervised and Foundation Models in Genomic Research.- Integrative Multi-Omics Modeling and Data Fusion.- Interpretability, Explainability, and Causality in Genomic AI.- Federated Learning and Privacy-Preserving Genomics.- AI for Clinical Genomics: Diagnostics and Prognostics.- AI-Driven Drug Discovery and Pharmacogenomics.- Population Genomics and Public Health Applications.- Ethical, Legal, and Societal Implications in Genomic AI.- Future Perspectives: Generative Models, Digital Twins, and Personalized Medicine.- Conclusion.