Περιγραφή
Clinical Genomics, Second Edition provides a full overview of next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. The book presents key bioinformatic challenges and solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. It focuses on the challenges of diagnostic interpretation of NGS results in a clinical setting, with later sections devoted to emerging regulatory issues governing the clinical use of NGS and reimbursement paradigms that will affect the way in which laboratory professionals get compensated for testing.Following the wide use of the current edition by clinicians and researchers alike, this fully revised, new edition addresses the evolving landscape of genomics medicine, along with recent advances in our understanding of molecular mechanisms of human diseases and developmental biology. In addition, the book updates on sequencing chemistry and platforms, bioinformatics algorithms, clinical informatics, IT infrastructure and emerging applications of artificial intelligence in genomics.
Key Features
- Simplifies the complexities of NGS technologies for rapid education of clinical genomicists and genomic pathologists
- Instructs in tested practice-based analysis for precision diagnosis and treatment plans, as well as pipelines and meta-analysis for a full range of clinically important variants
- Provides technical consideration for the validation and implementation of bioinformatics pipelines and related resources in the clinical molecular laboratory
- Addresses novel sequencing technologies, including long-read sequencing for detecting structural variants and haplotypes
- Covers cloud computing and Modern IT infrastructure (data storage, security, analytics) for scalable and secure genomics medicine
