The Fundamentals of Biomedical Science series has been written to reflect the challenges of practising biomedical science today. It draws together essential basic science with insights into laboratory practice to show how an understanding of the biology of disease is coupled to the analytical approaches that lead to diagnosis. Assuming only a minimum of prior knowledge, the series reviews the full range of disciplines to which a biomedical scientist may be exposed, from microbiologyto cytopathology to transfusion science.Medical Genetics and Genomics blends together theory and practice to provide a comprehensive overview of the subject of medical genetics and genomics, from basic to in-depth principles. BLWritten in an accessible, engaging, and student-focused way that encourages proactive learning of basic to advanced concepts in medical genetics and genomics.BLBalancing core biology and clinical relevance, this title offers up-to-date coverage of key areas and recent developments in medical genetics and genomics.BLAlso available as an digital version with functionality, navigation features, and links that offer extra learning support.
Introduction; Human Nucleic Acids and Inheritance; Chromosomes in health and disease; Complex disorders and polygenic and multifactorial inheritance; Genome sequencing; The genetic diagnostic laboratory; The genetics and genomics of cancer; Clinical microbiology in the genomic era; Ethics in human genetics research and clinical genetics practice; Precision medicine;
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