Clinical genomics is the use of genome sequencing to inform patient diagnosis and care. It is a new and rapidly-changingfield. Knowledge of the human genome is far from complete, but there are already uses for genetic and genomic informationin the clinic. This book on Clinical Genomics provides an overview of the various next-generation sequencing (NGS)technologies that are currently used in clinical diagnostic laboratories. It presents key bioinformatics challenges and thesolutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines foridentification of the full range of variants that are clinically important. This book is also focused on the challenges ofdiagnostic interpretation of NGS results in a clinical setting. This text simplifies complexities of NGS technologies for rapideducation of clinical genomicists and genomic pathologists towards genomic medicine paradigm. It also provides tried andtested practice-based analysis for precision diagnosis and treatment plans. There has been deliberate effort to cover-upvarious aspects of cancer Introduction to Genetics: A Molecular Approach and genomics such as genetic instability in cancer, gene expression profiling assays inearly stage breast cancer, tumor suppressor gene cancer, identifying and testing for hereditary susceptibility to breast andovarian cancer etc. All the facts have been illustrated in a very incisive way. This book is aimed at providing readers basicinformation about the various aspects and applications of clinical genomics.
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