Genomics is an interdisciplinary field of science, which is concerned with the structure, function, mapping, evolution and editing of genomes. It has numerous applications in the field of medicine. Genomic data of large populations when combined with modern informatics for disease research, can provide comprehensive insights into the genetic bases of disease and drug response. Medical genomics is increasingly becoming relevant in the understanding of common diseases. A patient with a suspected genetic disease undergoes a diagnostic evaluation that is tailored to account for the signs and symptoms presented, in order to establish a differential diagnosis. This is done for inborn errors of metabolism, chromosomal disorders and single gene disorders. Genetic syndromes arise due to alterations of chromosomes or genes. This book provides comprehensive insights into the field of medical and health genomics. It consists of contributions made by international experts. In this book, using case studies and examples, constant effort has been made to make the understanding of the difficult concepts of medical genomics as easy and informative as possible, for the readers.