Medical Genetics and Genomics

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 microbiology to 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.

• Written in an accessible, engaging, and student-focused way that encourages proactive learning of basic to advanced concepts in medical genetics and genomics.
• Balancing core biology and clinical relevance, this title offers up-to-date coverage of key areas and recent developments in medical genetics and genomics.
• Also available as an e-book with functionality, navigation features, and links that offer extra learning support.

Περιεχόμενα:

1:Introduction, Emanuela Volpi
2:Human Nucleic Acids and Inheritance, Lorna Tinworth
3:Chromosomes in health and disease, Emanuela Volpi
4:Complex disorders and polygenic and multifactorial inheritance, Nirmal Vadgama, Shivani Shah, Hussein Sheikh Ali Mohamoud, and Jamal Nasir
5:Genome sequencing, Dianne Newbury
6:The genetic diagnostic laboratory, Drew Ellershaw
7:The genetics and genomics of cancer, Heather Williams
8:Clinical microbiology in the genomic era, Vincenzo Torraca
9:Ethics in human genetics research and clinical genetics practice, Angus Clarke and Nicola Taverner
10:Precision medicine, Janine Lamb