New Clinical Genetics_ A Guide to Genomic Medicine by Dian Donnai PDF

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New Clinical Genetics: A Guide to Genomic Medicine by Dian Donnai PDF



New Clinical Genetics is used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, clinical and nurse geneticists, and students studying healthcare courses allied to medicine. Readers love the integrated case-based approach which ties the science to real-life clinical scenarios to really aid understanding.



Clinical genetics is a fast-moving field and there have been many advances in the few years since the previous edition was published. This 4th edition has been completely updated and revised to reflect new science, new techniques and new ways of thinking.



Nowhere is this more clear than in the chapter discussing genetics services which is now significantly expanded to reflect the increasing role of genomic medicine and the use of multidisciplinary teams in the management of patients with genetic disorders.



The unique case-based structure and format remains the same, but substantial new material has been added to cover:

polygenic risk scores – now starting to become useful clinical service tools

preimplantation diagnosis

noninvasive prenatal diagnosis

companion diagnostics for prescribed drugs

liquid biopsies in cancer

epigenetics and gene regulation

the widespread use of next-generation sequencing as a routine diagnostic tool

the checking of a patient’s whole exome for the cause of their problem



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