With its focus on fundamental principles in human genetics and genomics and their application to medicine, the book has served many as a well-thumbed resource they return to over and over....
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Coverage includes new discoveries—such as the functional roles of non-coding RNAs, chromatin regulation and epigenetics—latest technologies, and new diagnoses they are enabling… Under an expanded title, this ninth edition has been completely revised by a new editorial team overseeing a large cadre of contributing authors… Comprehensive coverage of: genomes in biology and medicine; copy number and structural genomic variation; novel discoveries; latest technology; and new genetic diagnoses; Over 40 clinical case studies, capturing the latest challenges of variable expression, pleiotropy, and complex disorders through new diagnostic strategies; Full-color text, illustrations, updated line diagrams, and clinical photos; End-of-chapter questions and comprehensive answers to challenge the reader to consolidate the material into practice and prepare for examination; Updated and new clinical cases… New content on growing role of sequencing and novel functional assays in diagnosis and screening of genetic conditions; New chapter on Epigenetics; New sections describing the use (and need for) genetic information from diverse populations, including unique indigenous and founder populations, for diagnosis and management (Fonte: Editore)
