Tom Strachan is Emeritus Professor of Human Molecular Genetics at Newcastle University, UK. He is the co-author of Human Molecular Genetics, now in its Fourth Edition.
Judith Goodship is Professor of Medical Genetics at Newcastle University and a Clinical Geneticist.
Patrick Chinnery is Director of the Institute of Genetic Medicine at Newcastle University, where he is Professor of Neurogenetics and a Clinical Neurologist.
This book is also focused on the challenges of diagnostic interpretation of NGS results in a clinical setting. Its final sections are devoted to the emerging regulatory issues that will govern clinical use of NGS, and reimbursement paradigms that will affect the way in which laboratory professionals get paid for the testing.Simplifies complexities of NGS technologies for rapid education of clinical genomicists and genomic pathologists towards genomic medicine paradigmTried and tested practice-based analysis for precision diagnosis and treatment plansSpecific pipelines and meta-analysis for full range of clinically important variants
In addition, genetic researchers, students and health professionals will find new and fully revised chapters on the molecular genetics of congenital heart defects, inherited cardiomyopathies, hypertension, cystic fibrosis, asthma, hereditary pulmonary emphysema, inflammatory bowel disease, and bile pigment metabolism disorders among other conditions.Offers pathways for diagnosis, prevention and disease managementIncludes color images supporting identification, concept illustration and method processingFeatures contributions by leading international researchers and practitioners of medical genetics
Fully integrated approach to the molecular aspects of human genetics, genomics, and cell biology
Accessible text is supported and enhanced throughout by superb artwork illustrating the key concepts and mechanisms
Summary boxes at the end of each chapter provide clear learning points
Annotated further reading helps readers navigate the wealth of additional information in this complex subject and provides direction for further study
Reorganized into five sections for improved access to related topics
Also new to this edition – brand new chapter on evolution and anthropology from the authors of the highly acclaimed Human Evolutionary Genetics
A proven and popular textbook for upper-level undergraduates and graduate students, the new edition of Human Molecular Genetics remains the ‘go-to’ book for those studying human molecular genetics or genomics courses around the world.