Principles and applications of molecular diagnostics

Principles and Aspects of Molecular Diagnostics is an accessible guide for clinical chemists and biologists applying molecular technology to clinical diagnosis. The book consists of two parts, with Part One covering principles and analytical concepts in molecular diagnostics, such as genomes and var...

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Other Authors: Rifai, Nader,, Horvath, Andrea R., Wittwer, C. 1955-, ScienceDirect (Online service)
Format: eBook
Language: English
Published: Amsterdam, Netherlands ; Oxford, United Kingdom ; Cambridge, MA : Elsevier, [2018]
Physical Description: 1 online resource.
Subjects:
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245 0 0 |a Principles and applications of molecular diagnostics /  |c Nader Rifai, PhD, Andrea Rita Horvath, MD, PhD, Carl T. Wittwer, MD, PhD. 
264 1 |a Amsterdam, Netherlands ;  |a Oxford, United Kingdom ;  |a Cambridge, MA :  |b Elsevier,  |c [2018] 
300 |a 1 online resource. 
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500 |a Includes index. 
520 |a Principles and Aspects of Molecular Diagnostics is an accessible guide for clinical chemists and biologists applying molecular technology to clinical diagnosis. The book consists of two parts, with Part One covering principles and analytical concepts in molecular diagnostics, such as genomes and variants, nucleic acids isolation and techniques, circulating tumor cells and DNA, and cellular DNA. Part Two presents clinical applications of molecular diagnostics in solid tumors, prenatal diagnosis, infectious disease, genetic disease, hematopoietic malignancies, pharmacogenetics and identity testing. This book is ideal for those who need a thorough, yet succinct, guide on the use of this technology for molecular testing. Explains the principles and tools of molecular biology, along with the modern analytical tools that can be used to obtain the best results. 
588 0 |a Online resource; title from PDF title page (EBSCO, viewed June 19, 2018). 
505 0 |a Intro; Title page; Table of Contents; Copyright; Contributors; Preface; 1. Principles of Molecular Biology; Historical Developments in Genetics and Molecular Biology; Molecular Biology Essentials; Nucleic Acid Structure and Function; Central Dogma of Molecular Biology; Epigenetics; Understanding Our Genome; 2. Genomes and Variants; Introduction; Human Genome; Variations in Specific Populations; Nonhuman Genomes; DNA That Codes for RNA but Not Protein; Variation in the Human Genome; Nomenclature; Databases; Informatics; 3. Nucleic Acid Isolation; History of Nucleic Acid Preparation Tools. 
505 8 |a Steps Involved in NA PreparationImpact of Sample Matrix on Nucleic Acid Preparation; Processing Throughput; Specific Applications; Nucleic Acid Quality and Quantity; Methods to Measure Nucleic Acid Quality and Quantity; Summary of Methods; Conclusion; 4. Nucleic Acid Techniques; Introduction; Nucleic Acid Preparation; Amplification Techniques; Detection Techniques; Discrimination Techniques; 5. Molecular Microbiology; Introduction; Viral Syndromes; Sexually Transmitted Infections; Respiratory Tract Infections; Bloodstream Infections; Central Nervous System; Gastroenteritis. 
505 8 |a Antibacterial Drug ResistanceHuman Microbiome and Metagenomics; Future Directions; 6. Genetics; Diseases With Mendelian Inheritance; Mitochondrial DNA Diseases; Imprinting; Expanded Carrier Screening; Massively Parallel Sequencing; Whole-Exome Sequencing; Cytogenomics; Reporting of Test Results; Laboratory Regulation; 7. Solid Tumor Genomics; Considerations for Solid Tumor Genomics; Genomic Analysis of Solid Tumors; Massive Parallel Sequencing of Solid Tumor Samples; Interpreting Somatic Alterations in a Clinical Context; Summary and Concluding Remarks. 
505 8 |a 8. Genetic Aspects of Hematopoietic MalignanciesRecurrent Translocations and Structural Chromosomal Abnormalities; Gene Mutations in Hematopoietic Malignancies; Role of Genetic Regulatory Mechanisms in Hematopoietic Malignancies; Clonality Testing in Hematopoietic Malignancies; Conclusion; 9. Circulating Tumor Cells and Circulating Tumor DNA; Circulating Tumor Cells; Circulating Tumor DNA; Combined Discussion of CTC and ctDNA; Conclusions; 10. Circulating Nucleic Acids for Prenatal Diagnostics; Brief Overview of the Early Developments of Prenatal Genetic Diagnostics. 
505 8 |a Strategies to Mitigate Risks of Invasive Prenatal DiagnosisNoninvasive Fetal DNA Analysis; The Biology of Circulating Cell-Free Fetal Nucleic Acids in Maternal Plasma; Diagnostic Applications of Circulating cffDNA; Noninvasive Fetal 'Omics; Analytical Aspects; Conclusion; 11. Pharmacogenetics; Principles of Pharmacogenetics; Specific Examples of Pharmacogene Associations; Future Directions; 12. Identity Testing; Short Tandem Repeats and Amelogenin; The Analytical Process; Y-Short Tandem Repeats; Mitochondrial DNA; Touch Samples and DNA Mixtures; Single Nucleotide Polymorphisms. 
650 0 |a Molecular diagnosis. 
650 0 |a Molecular biology. 
650 7 |a HEALTH & FITNESS / Diseases / General.  |2 bisacsh. 
650 7 |a MEDICAL / Clinical Medicine.  |2 bisacsh. 
650 7 |a MEDICAL / Diseases.  |2 bisacsh. 
650 7 |a MEDICAL / Evidence-Based Medicine.  |2 bisacsh. 
650 7 |a MEDICAL / Internal Medicine.  |2 bisacsh. 
650 7 |a Molecular biology.  |2 fast. 
650 7 |a Molecular diagnosis.  |2 fast. 
655 4 |a Electronic books. 
700 1 |a Rifai, Nader,  |e editor. 
700 1 |a Horvath, Andrea R.  |q (Andrea Rita),  |e editor. 
700 1 |a Wittwer, C.  |q (Carl),  |d 1955-  |e editor. 
710 2 |a ScienceDirect (Online service) 
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