Clinical Genomics

Clinical Genomics

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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 paradigm Tried and tested practice-based analysis for precision diagnosis and treatment plans Specific pipelines and meta-analysis for full range of clinically important variants... 131A€133 defined, 130 formulation mechanisms, 133A€134 defective mismatch repair, 134 imperfect double-strand DNA break repair, ... 378A€379 Interpretation, 31A€33 SNV detection, 122A€123 databases, 122 kindred testing, 123 missense variants, 122 online resources, ... See Local Coverage Determination (LCD) Left alignment, indels, 143A€144 Legal cases, on gene patents, 438A€443 Leiden Openanbsp;...

Title:Clinical Genomics
Author:Shashikant Kulkarni, John Pfeifer
Publisher:Academic Press - 2014-11-10


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