Titlebook: Genomic Applications in Pathology; George Jabboure Netto,Karen L. Kaul Book 2019Latest edition Springer International Publishing AG, part

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Transcriptome Sequencing (RNA-Seq)ls and tissues and is allowing us to better understand alternative splicing and the functional elements of the genome and to identify single-nucleotide variants and new fusion transcripts in cancer. We also review current and potential clinical applications of RNA-Seq technology in inherited, chronic, neoplastic, and infectious diseases

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Book 2019Latest editionrs. A paradigm shift in pharmacogenomics and in the diagnosis of genetic inherited diseases and infectious diseases is unfolding as the result of implementation of next generation genomic technologies. With rapidly growing knowledge and applications driving this revolution, along with significant te

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Practicing Pathology in the Post-genomic Era: Challenges and Opportunitiestandards, and proficiency programs. Evolving issues include the type, target, and timing of genomic analysis of tumors and regulatory and reimbursement issues. Additionally, educational needs for pathology trainees, practicing pathologists, and clinical colleagues should be addressed.

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Circulating Cell-Free DNA for Molecular Diagnostics and Therapeutic Monitoringequired advances in technology that have only recently become available. In this chapter, we review the history of circulating DNA, technologies for identifying and measuring it, and applications, especially as a cancer biomarker, that promise to emerge as new standards of care for clinical medicine.

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Case Study: Gill Plasticity in Larval Fishess. The value of existing concepts of laboratory-developed tests and companion diagnostics will need revision in order to accommodate genomic sequencing assays. This chapter addresses these issues and the notion that, to some extent, these novel technologies will challenge established definitions of disease and the foundations of medical practice.

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Application of landscape ecology,r high-throughput sequencing can be applied to single-gene targets in specialized situations. This chapter discusses these applications in minimal residual disease detection, infectious diseases, and HLA typing, among others.

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