Clinical Genomics, Second Edition

Clinical Genomics, Second Edition provides a full overview of next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. It presents key bioinformatic challenges and the 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. This book focuses on the challenges of diagnostic interpretation of NGS results in a clinical setting, with later sections devoted to emerging regulatory issues governing clinical use of NGS, and reimbursement paradigms that will affect the way in which laboratory professionals get compensated for the testing. Following the wide use of the current edition by clinicians and researchers alike, this fully revised, Second Edition addresses the evolving landscape of genomics medicine, and recent advances in our understanding of molecular mechanisms of human diseases and developmental biology, as well as sequencing chemistry and platforms, bioinformatics algorithms, clinical informatics, IT infrastructure, and emerging applications of artificial intelligence in genomics. Across several, all-new chapters, global contributors discuss and provide guidance in structural variant detection, the human reference genome, data storage and analytics, genomic data security and privacy, cloud computing, and clinical NGS IT infrastructure implementation and validation. Updates also cover reimbursement paradigms impacting clinical genomics, and professional society guidelines related to NGS assay and pipeline validation and variant interpretation. Simplifies 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 full range of clinically important variants Provides technical consideration for validation and implementation of bioinformatics pipelines and related resources in 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