Clinical Genomics

Clinical Genomics provides an overview of the various 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 is also focused on the challenges of diagnostic interpretation of NGS results in a clinical setting. Its final sections are devoted to the emerging regulatory issues that will govern clinical use of NGS, and reimbursement paradigms that will affect the way in which laboratory professionals get paid for the testing. Simplifies complexities of NGS technologies for rapid education of clinical genomicists and genomic pathologists towards genomic medicine paradigmTried and tested practice-based analysis for precision diagnosis and treatment plansSpecific pipelines and meta-analysis for full range of clinically important variants.

Front Cover -- Clinical Genomics -- Copyright Page -- Dedication -- Contents -- List of Contributors -- Foreword -- Preface -- Acknowledgments -- I. Methods -- 1 Overview of Technical Aspects and Chemistries of Next-Generation Sequencing -- Clinical Molecular Testing: Finer and Finer Resolution -- Sanger Sequencing -- Chemistry of Sanger Sequencing, Electrophoresis, Detection -- Applications in Clinical Genomics -- Technical Constraints -- Read Length and Input Requirements -- Pooled Input DNA Puts a Limit on Sensitivity -- Cyclic Array Sequencing -- Illumina Sequencing -- Library Prep and Sequencing Chemistry -- Choice of Platforms -- Phasing -- SOLiD Sequencing -- Ion Torrent Sequencing -- AmpliSeq Library Preparation -- Roche 454 Genome Sequencers -- Third-Generation Sequencing Platforms -- References -- 2 Clinical Genome Sequencing -- Introduction -- Next-Generation Sequencing -- Sequencing in the Clinical Laboratory -- Applications and Test Information -- Challenges of Defining a Test Offering That Is Specific to Each Case -- Laboratory Process, Data Generation, and Quality Control -- Preanalytical and Quality Laboratory Processes -- Analytical -- Bioinformatics -- Validation…