Artificial Intelligence (AI) that includes Machine Learning (ML) and Deep
Learning (DL) has revolutionised the various domains of science and genetics. The AIdriven approaches have enabled the rapid analysis of vast genomic datasets, improved
the diagnosis of various diseases and drug discoveries, leading to personalised
medicines. This chapter explains the role of AI and ML in genetics, exploring their
applications along with their benefits, challenges, and future prospects.
Keywords: Artificial intelligence, De novo mutations, Deep learning, Genetics, Insertions and deletions, Machine learning, Single nucleotide polymorphisms.
