Clinical Genomics

Concepts and Applications

Gebonden Engels 2026 9783032346667
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Clinical Genomics is an emerging discipline that aims to translate the discoveries and methodologies of Genomics into clinical practice, encompassing prevention, diagnosis, and treatment. This book offers a comprehensive introduction to this fast-moving field for readers interested in understanding how the Human Genome Project, next-generation sequencing technologies, and bioinformatics are reshaping modern medicine. Written by an expert in the field, this book balances core concepts with real-world applications. It is a must-read for students and professionals in Medicine, Biochemistry, Molecular Biology, Biotechnology, Bioinformatics, and related health sciences who seek to understand the clinical applications of genomics. It also serves professionals who wish to acquire practical knowledge on how Clinical Genomics is practiced and implemented across various clinical settings, including the use of genomics in disease diagnosis, treatment, and prevention.

Specificaties

ISBN13:9783032346667
Taal:Engels
Bindwijze:Gebonden
Aantal pagina's:152
Uitgever:Springer Nature Switzerland

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Inhoudsopgave

Introduction to Clinical Genomics.- (The) Human Genome(s).- DNA Sequencing.- Bioinformatics.- From Genome to Variants and Their Meaning.- Application of Clinical Genomics to the Diagnosis of Mendelian Diseases.- Annotation and Classification of Variants According to the Criteria of the American College of Medical Genetics (ACMG).- From Variant Analysis to the Report of Results.- Population Genomics and Genetic Diversity.- Ethical, Legal and Social Issues (ELSI).- Cancer Genomics.

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          Clinical Genomics