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Clinical applications for next-generation sequencing /
| Clasificación: | Libro Electrónico |
|---|---|
| Otros Autores: | , |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
London :
Academic Press,
[2016]
|
| Temas: | |
| Acceso en línea: | Texto completo |
Tabla de Contenidos:
- Machine generated contents note: NGS Versus Traditional (Sanger Sequencing) / Ratal Ploski
- Coverage / Ratal Ploski
- NGS Library Preparation / Ratal Ploski
- Sequence Assembly: De Novo Sequencing vs Resequencing / Ratal Ploski
- Paired-End and Mate-Pair Libraries and Long Fragment Read Technology / Ratal Ploski
- NGS Platforms / Ratal Ploski
- Illumina / Ratal Ploski
- Semiconductor-based platforms / Ratal Ploski
- Sequencing by the Oligo Ligation Detection (SOLiD) Platform / Ratal Ploski
- Pyrosequencing on Roche/454 platforms / Ratal Ploski
- Complete genomics analysis (CGATM) platform / Ratal Ploski
- Single-Molecule Sequencing / Ratal Ploski
- Targeted Resequencing/Enrichment Strategies / Ratal Ploski
- Whole Exome Sequencing and Whole Genome Sequencing / Ratal Ploski
- Limitations of NGS in Clinical Medicine / Ratal Ploski
- Conclusion / Ratal Ploski
- References / Ratal Ploski
- Note continued: Software Tools / Piotr Stawinski / Ravi Sachidanandam / Izabela Chojnicka / Rafal Ploski
- Input Sequence Preprocessing / Piotr Stawinski / Ravi Sachidanandam / Izabela Chojnicka / Rafal Ploski
- Mapping / Piotr Stawinski / Ravi Sachidanandam / Izabela Chojnicka / Rafal Ploski
- Processing and Interpreting Mapping / Piotr Stawinski / Ravi Sachidanandam / Izabela Chojnicka / Rafal Ploski
- Insertions and Deletions Realignment / Piotr Stawinski / Ravi Sachidanandam / Izabela Chojnicka / Rafal Ploski
- Base Quality Recalibration / Piotr Stawinski / Ravi Sachidanandam / Izabela Chojnicka / Rafal Ploski
- Variant Calling / Piotr Stawinski / Ravi Sachidanandam / Izabela Chojnicka / Rafal Ploski
- Major Approaches to the Variant Calling / Piotr Stawinski / Ravi Sachidanandam / Izabela Chojnicka / Rafal Ploski
- Variant Calling Format / Piotr Stawinski / Ravi Sachidanandam / Izabela Chojnicka / Rafal Ploski
- Note continued: Variant Annotation / Piotr Stawinski / Ravi Sachidanandam / Izabela Chojnicka / Rafal Ploski
- Software and Hardware Issues / Piotr Stawinski / Ravi Sachidanandam / Izabela Chojnicka / Rafal Ploski
- Computational Architecture / Piotr Stawinski / Ravi Sachidanandam / Izabela Chojnicka / Rafal Ploski
- Storage Architecture / Piotr Stawinski / Ravi Sachidanandam / Izabela Chojnicka / Rafal Ploski
- References / Piotr Stawinski / Ravi Sachidanandam / Izabela Chojnicka / Rafal Ploski
- Introduction / Dariusz Plewczynski / Slawomir Gruca / Przemyslaw Szalaj / Krystian Gulik / Silviene Fabiana de Oliveira / Ankit Malhotra
- Structural Variants in the Human Genome / Dariusz Plewczynski / Slawomir Gruca / Przemyslaw Szalaj / Krystian Gulik / Silviene Fabiana de Oliveira / Ankit Malhotra
- Structural Variation and Human Disease / Dariusz Plewczynski / Slawomir Gruca / Przemyslaw Szalaj / Krystian Gulik / Silviene Fabiana de Oliveira / Ankit Malhotra
- Note continued: Analysis of Structural Variation by Legacy Technologies / Dariusz Plewczynski / Slawomir Gruca / Przemyslaw Szalaj / Krystian Gulik / Silviene Fabiana de Oliveira / Ankit Malhotra
- Structural Variation and Next Generation Sequencing / Dariusz Plewczynski / Slawomir Gruca / Przemyslaw Szalaj / Krystian Gulik / Silviene Fabiana de Oliveira / Ankit Malhotra
- Methods for Estimation of Copy Number Variation from NGS Data / Dariusz Plewczynski / Slawomir Gruca / Przemyslaw Szalaj / Krystian Gulik / Silviene Fabiana de Oliveira / Ankit Malhotra
- Structural Variation, NGS, Cancer, and the Clinic / Dariusz Plewczynski / Slawomir Gruca / Przemyslaw Szalaj / Krystian Gulik / Silviene Fabiana de Oliveira / Ankit Malhotra
- NGS-Based Structural Variation Detection Software / Dariusz Plewczynski / Slawomir Gruca / Przemyslaw Szalaj / Krystian Gulik / Silviene Fabiana de Oliveira / Ankit Malhotra
- Note continued: Future Directions / Dariusz Plewczynski / Slawomir Gruca / Przemyslaw Szalaj / Krystian Gulik / Silviene Fabiana de Oliveira / Ankit Malhotra
- Acknowledgments / Dariusz Plewczynski / Slawomir Gruca / Przemyslaw Szalaj / Krystian Gulik / Silviene Fabiana de Oliveira / Ankit Malhotra
- References / Dariusz Plewczynski / Slawomir Gruca / Przemyslaw Szalaj / Krystian Gulik / Silviene Fabiana de Oliveira / Ankit Malhotra
- NGS in Cancer Research / Eliza Glodkowska-Mrowka / Tomasz Stoklosa
- NGS in Clinical Settings / Eliza Glodkowska-Mrowka / Tomasz Stoklosa
- Familial Genetic Testing / Eliza Glodkowska-Mrowka / Tomasz Stoklosa
- Molecular Disease Classification / Eliza Glodkowska-Mrowka / Tomasz Stoklosa
- Pharmacogenomics / Eliza Glodkowska-Mrowka / Tomasz Stoklosa
- Testing in "Last-Resort" Patients / Eliza Glodkowska-Mrowka / Tomasz Stoklosa
- Note continued: Circulating Cell-Free Tumor DNA and Circulating Tumor Cells / Eliza Glodkowska-Mrowka / Tomasz Stoklosa
- Treatment Monitoring / Eliza Glodkowska-Mrowka / Tomasz Stoklosa
- Biomarkers in Clinical Decision-Making / Eliza Glodkowska-Mrowka / Tomasz Stoklosa
- Current Obstacles Preventing NGS from Wide Application in Clinical Settings / Eliza Glodkowska-Mrowka / Tomasz Stoklosa
- Targeted versus Genome-Wide Approach / Eliza Glodkowska-Mrowka / Tomasz Stoklosa
- Future of Oncogenomics / Eliza Glodkowska-Mrowka / Tomasz Stoklosa
- Pros and Cons of Traditional versus NGS Sequencing Approach / Eliza Glodkowska-Mrowka / Tomasz Stoklosa
- Challenges in Clinical Oncogenomics / Eliza Glodkowska-Mrowka / Tomasz Stoklosa
- References / Eliza Glodkowska-Mrowka / Tomasz Stoklosa
- Introduction / Iwona Malinowska / Eliza Glodkowska-Mrowka
- Childhood and Adult Acute Lymphoblastic Leukemias / Iwona Malinowska / Eliza Glodkowska-Mrowka
- Note continued: T-Cell Acute Lymphoblastic Leukemia / Iwona Malinowska / Eliza Glodkowska-Mrowka
- BCR[--]ABL1-like Acute Lymphoblastic Leukemia / Iwona Malinowska / Eliza Glodkowska-Mrowka
- Hypodiploid Acute Lymphoblastic Leukemia / Iwona Malinowska / Eliza Glodkowska-Mrowka
- Relapsed Acute Lymphoblastic Leukemia / Iwona Malinowska / Eliza Glodkowska-Mrowka
- Acute Myeloid Leukemia / Iwona Malinowska / Eliza Glodkowska-Mrowka
- Genetic Concept of Acute Myeloid Leukemia Pathogenesis / Iwona Malinowska / Eliza Glodkowska-Mrowka
- BRAF Mutation in Hairy Cell Leukemia / Iwona Malinowska / Eliza Glodkowska-Mrowka
- CSF3R Mutation in Chronic Neutrophilic Leukemia / Iwona Malinowska / Eliza Glodkowska-Mrowka
- NGS in Chronic Lymphocytic Lymphoma / Iwona Malinowska / Eliza Glodkowska-Mrowka
- Non-Hodgkin Lymphomas / Iwona Malinowska / Eliza Glodkowska-Mrowka
- Inherited Bone Marrow Failure Syndromes / Iwona Malinowska / Eliza Glodkowska-Mrowka
- Note continued: Fanconi Anemia / Iwona Malinowska / Eliza Glodkowska-Mrowka
- Dyskeratosis Congenita / Iwona Malinowska / Eliza Glodkowska-Mrowka
- Thrombocytopenia Absent Radius Syndrome / Iwona Malinowska / Eliza Glodkowska-Mrowka
- Diamond[--]Blackfan Anemia / Iwona Malinowska / Eliza Glodkowska-Mrowka
- Commercial NGS-Based Assays for Clinical Use in Hematology Practice / Iwona Malinowska / Eliza Glodkowska-Mrowka
- Implementation of NGS-Based Techniques in Clinical Practice in Hematology / Iwona Malinowska / Eliza Glodkowska-Mrowka
- Conclusion / Iwona Malinowska / Eliza Glodkowska-Mrowka
- References / Iwona Malinowska / Eliza Glodkowska-Mrowka
- Introduction / Krystyna Szymatiska / Krzysztof Szczaluba / Anna Kostera-Pruszczyk / Tomasz Wolanczyk
- Genetic Testing in Neurology and Psychiatry / Krystyna Szymatiska / Krzysztof Szczaluba / Anna Kostera-Pruszczyk / Tomasz Wolanczyk
- Note continued: Epilepsy / Krystyna Szymatiska / Krzysztof Szczaluba / Anna Kostera-Pruszczyk / Tomasz Wolanczyk
- Ataxia / Krystyna Szymatiska / Krzysztof Szczaluba / Anna Kostera-Pruszczyk / Tomasz Wolanczyk
- Hereditary Spastic Paraplegias / Krystyna Szymatiska / Krzysztof Szczaluba / Anna Kostera-Pruszczyk / Tomasz Wolanczyk
- Movement Disorders / Krystyna Szymatiska / Krzysztof Szczaluba / Anna Kostera-Pruszczyk / Tomasz Wolanczyk
- Neuromuscular Disorders / Krystyna Szymatiska / Krzysztof Szczaluba / Anna Kostera-Pruszczyk / Tomasz Wolanczyk
- Neurodegenerative Diseases with Dementia / Krystyna Szymatiska / Krzysztof Szczaluba / Anna Kostera-Pruszczyk / Tomasz Wolanczyk
- Neuropsychiatric Disorders / Anna Kostera-Pruszczyk / Krzysztof Szczaluba / Krystyna Szymatiska / Tomasz Wolanczyk
- Intellectual Disability / Krystyna Szymatiska / Krzysztof Szczaluba / Anna Kostera-Pruszczyk / Tomasz Wolanczyk
- Note continued: Autism / Anna Kostera-Pruszczyk / Krzysztof Szczaluba / Krystyna Szymatiska / Tomasz Wolanczyk
- Intellectual Disability and Autism[--]A Practical Approach / Krystyna Szymatiska / Krzysztof Szczaluba / Anna Kostera-Pruszczyk / Tomasz Wolanczyk
- Genetic Testing in Autism and ID[--]A Proposal / Krystyna Szymatiska / Krzysztof Szczaluba / Tomasz Wolanczyk / Anna Kostera-Pruszczyk
- Autism Databases / Krystyna Szymatiska / Anna Kostera-Pruszczyk / Krzysztof Szczaluba / Tomasz Wolanczyk
- Major Psychiatric Disorders / Krystyna Szymatiska / Krzysztof Szczaluba / Anna Kostera-Pruszczyk / Tomasz Wolanczyk
- References / Krystyna Szymatiska / Krzysztof Szczaluba / Anna Kostera-Pruszczyk / Tomasz Wolanczyk
- Dysmorphology[--]Past and Present / Robert Smigiel / Urszula Demkow
- Diagnostic Process in Dysmorphology / Robert Smigiel / Urszula Demkow
- Genetic Testing in Dysmorphology / Robert Smigiel / Urszula Demkow
- Note continued: NGS Testing in Dysmorphology and Rare Multiple Congenital Defects Syndromes / Robert Smigiel / Urszula Demkow
- Dilemmas / Robert Smigiel / Urszula Demkow
- Reverse Dysmorphology / Robert Smigiel / Urszula Demkow
- NGS and Screening of Rare Disorders in Newborns / Robert Smigiel / Urszula Demkow
- Conclusions / Robert Smigiel / Urszula Demkow
- List of Abbreviations / Robert Smigiel / Urszula Demkow
- References / Robert Smigiel / Urszula Demkow
- Introduction / Monika Oldak
- NGS Tests for Vision and Hearing Disorders / Monika Oldak
- Compatibility of Standard Enrichment Panels with Genetic Vision and Hearing Disorders / Monika Oldak
- Utility of NGS Testing for Diagnostic Purposes of Vision and Hearing Disorders / Monika Oldak
- Cumulative Mutation Load / Monika Oldak
- Digenic and Oligogenic Inheritance / Monika Oldak
- De Novo Mutations / Monika Oldak
- Copy Number Variations / Monika Oldak
- Note continued: Novel Genes and "Erroneous" Disease Genes / Monika Oldak
- Conclusions / Monika Oldak
- Abbreviations / Monika Oldak
- Acknowledgments / Monika Oldak
- References / Monika Oldak
- Introduction / Ozgur Cogulu
- Conventional Prenatal Diagnostics and Methods / Ozgur Cogulu
- Use of Fetal Biological Material in the Maternal Circulation for Prenatal Diagnosis / Ozgur Cogulu
- Fetal DNA in Prenatal Diagnosis / Ozgur Cogulu
- Properties of Cell-Free Fetal DNA / Ozgur Cogulu
- Applications of Noninvasive Prenatal Tests / Ozgur Cogulu
- NGS in the Determination of Genomic Disorders by Using cffDNA in Maternal Plasma / Ozgur Cogulu
- Single-Nucleotide Polymorphism Sequencing of Cell-Free Fetal DNA / Ozgur Cogulu
- Limitations and Challenges of NGS-Based Noninvasive Prenatal Testing / Ozgur Cogulu
- Clinical Implementation of Noninvasive Prenatal Testing for Aneuploidies / Ozgur Cogulu
- Conclusion / Ozgur Cogulu
- References / Ozgur Cogulu
- Note continued: Introduction / Joanna Poninska / Rafal Ploski / Zofia T. Bilinska
- General Information on Multigene Panels / Joanna Poninska / Rafal Ploski / Zofia T. Bilinska
- Cardiomyopathies / Joanna Poninska / Rafal Ploski / Zofia T. Bilinska
- Hypertrophic Cardiomyopathy / Joanna Poninska / Rafal Ploski / Zofia T. Bilinska
- Dilated Cardiomyopathy / Joanna Poninska / Rafal Ploski / Zofia T. Bilinska
- Arrhythmogenic Right Ventricular Cardiomyopathy / Joanna Poninska / Rafal Ploski / Zofia T. Bilinska
- Restrictive Cardiomyopathy / Joanna Poninska / Rafal Ploski / Zofia T. Bilinska
- Left-Ventricular Noncompaction / Joanna Poninska / Rafal Ploski / Zofia T. Bilinska
- Arrhythmias / Joanna Poninska / Rafal Ploski / Zofia T. Bilinska
- Long QT Syndrome / Joanna Poninska / Rafal Ploski / Zofia T. Bilinska
- Brugada Syndrome / Joanna Poninska / Rafal Ploski / Zofia T. Bilinska
- Note continued: Catecholaminergic Polymorphic Ventricular Tachycardia / Joanna Poninska / Rafal Ploski / Zofia T. Bilinska
- Cardiac Conduction Disease / Joanna Poninska / Rafal Ploski / Zofia T. Bilinska
- Short QT Syndrome / Joanna Poninska / Rafal Ploski / Zofia T. Bilinska
- Atrial Fibrillation / Joanna Poninska / Rafal Ploski / Zofia T. Bilinska
- Thoracic Aortic Aneurysms and Dissections / Joanna Poninska / Rafal Ploski / Zofia T. Bilinska
- Congenital Heart Disease / Joanna Poninska / Rafal Ploski / Zofia T. Bilinska
- Familial Hypercholesterolemia / Rafal Ploski / Zofia T. Bilinska / Joanna Poninska
- Conclusions / Joanna Poninska / Rafal Ploski / Zofia T. Bilinska
- List of Acronyms and Abbreviations / Joanna Poninska / Rafal Ploski / Zofia T. Bilinska
- Acknowledgments / Joanna Poninska / Rafal Ploski / Zofia T. Bilinska
- References / Joanna Poninska / Rafal Ploski / Zofia T. Bilinska
- Introduction / Urszula Demkow
- Note continued: Cancer Therapy / Urszula Demkow
- Clinical Trials in Oncology / Urszula Demkow
- Ethical Issues in Oncopharmacogenomics / Urszula Demkow
- Multicenter Collaborations in Oncopharmacogenomics / Urszula Demkow
- NGS in Noncancer Pharmacogenomics / Urszula Demkow
- Cytochrome P450 / Urszula Demkow
- Non-P450 Drug-Metabolizing Enzymes / Urszula Demkow
- Drug Transporters / Urszula Demkow
- Clinical Applications of Pharmacogenomics / Urszula Demkow
- Anticoagulants / Urszula Demkow
- Psychiatry / Urszula Demkow
- Analgesics / Urszula Demkow
- Transplantology / Urszula Demkow
- Anti-Human Immunodeficiency Virus Drugs / Urszula Demkow
- Multigene Pharmacogenetic Tests Assessing Pharmacokinetics and Pharmacodynamics Response / Urszula Demkow
- Quality Requirements for NGS-Based Pharmacogenomic Tests / Urszula Demkow
- Guidelines for Clinical Application of Pharmacogenomics / Urszula Demkow
- Note continued: NGS in Pharmacogenomics[--]Other Possible Applications / Urszula Demkow
- Limitations of NGS in Pharmacogenomics / Urszula Demkow
- Conclusions / Urszula Demkow
- References / Urszula Demkow
- Introduction / Asude Durmaz / Burak Durmaz
- Genetic Counseling / Asude Durmaz / Burak Durmaz
- Genetic Counseling in the NGS Era / Asude Durmaz / Burak Durmaz
- Pretest Genetic Counseling / Asude Durmaz / Burak Durmaz
- Informed Consent Form / Asude Durmaz / Burak Durmaz
- Return of Results / Asude Durmaz / Burak Durmaz
- Future Perspectives / Asude Durmaz / Burak Durmaz
- List of Acronyms and Abbreviations / Asude Durmaz / Burak Durmaz
- References / Asude Durmaz / Burak Durmaz
- Overview / Urszula Demkow
- The Overall Genetic Testing Strategy in Undiagnosed Diseases[--]Looking for the Needle in a Haystack / Urszula Demkow
- The Analysis of NGS Testing Results for Rare Diseases / Urszula Demkow
- Pathogenicity / Urszula Demkow
- Note continued: Good Laboratory Practice in Genetic Testing for Undiagnosed Diseases / Urszula Demkow
- Test Validation / Urszula Demkow
- The Importance of Genetic Diagnosis in Rare Diseases / Urszula Demkow
- Conclusions / Urszula Demkow
- References / Urszula Demkow
- United States / Jacub Owoc
- Great Britain / Jacub Owoc
- Holland / Jacub Owoc
- Germany / Jacub Owoc
- Conclusions / Jacub Owoc
- References / Jacub Owoc
- Sequencing Platforms / Michal Okoniewski / Rafal Ploski / Urszula Demkow / Marek Wiewiorka
- Nanopore Sequencing / Michal Okoniewski / Marek Wiewiorka / Rafal Ploski / Urszula Demkow
- Emerging Commercial Solutions / Rafal Ploski / Michal Okoniewski / Marek Wiewiorka / Urszula Demkow
- Future Directions of Clinical Genomics Data Processing / Marek Wiewiorka / Rafal Ploski / Michal Okoniewski / Urszula Demkow
- Data Size Estimates and Current Processing Limitations / Michal Okoniewski / Rafal Ploski / Marek Wiewiorka / Urszula Demkow
- Note continued: Data Processing Models / Marek Wiewiorka / Rafal Ploski / Michal Okoniewski / Urszula Demkow
- Hadoop Ecosystem Tools That Can Be Used in Genomic Medicine / Michal Okoniewski / Rafal Ploski / Marek Wiewiorka / Urszula Demkow
- Data Security and Biobanking / Michal Okoniewski / Rafal Ploski / Urszula Demkow / Marek Wiewiorka
- Currently Developing Scenarios and Cases / Michal Okoniewski / Marek Wiewiorka / Rafal Ploski / Urszula Demkow
- Expected Challenges and Limitations of Future Data Processing Tools and Models / Michal Okoniewski / Rafal Ploski / Marek Wiewiorka / Urszula Demkow
- Education of Physicians and Medical Researchers in the Understanding and Use of Genomic Data Processing / Marek Wiewiorka / Rafal Ploski / Michal Okoniewski / Urszula Demkow
- Electronic Health Records / Marek Wiewiorka / Rafal Ploski / Michal Okoniewski / Urszula Demkow
- Note continued: Conclusion[--]Vision of Near-Future Medical Genomics Information Systems / Michal Okoniewski / Rafal Ploski / Marek Wiewiorka / Urszula Demkow
- References / Michal Okoniewski / Rafal Ploski / Marek Wiewiorka / Urszula Demkow
- Introduction / John D. Lantos
- Differences between WGS and Genetic Testing in Other Contexts / John D. Lantos
- Newborn Metabolic Screening / John D. Lantos
- Carrier Testing in Carefully Selected High-Risk Populations / John D. Lantos
- Genetic Testing of Stored Samples in Biorepositories / John D. Lantos
- The Specific Ethical Issues of Whole-Genome Sequencing for Clinical Diagnosis / John D. Lantos
- Thinking about Harms and Benefits / John D. Lantos
- Conclusions / John D. Lantos
- Unpredictable Consequences of the Next Generation / Urszula Demkow / Andrzej Kochanski
- Sequencing-Related Technological Revolution in Medical Genetics / Urszula Demkow / Andrzej Kochanski
- Note continued: Problem 1: The Right Not to Know / Urszula Demkow / Andrzej Kochanski
- Problem 2: Incidental/Unsolicited Findings / Andrzej Kochanski / Urszula Demkow
- Problem 3: Genetic Determinism and Discrimination / Andrzej Kochanski / Urszula Demkow
- Problem 4: Genetically-Based Selection of Human Embryos and Assisted Reproductive Technology / Urszula Demkow / Andrzej Kochanski
- Problem 5: NGS and Social Issues / Urszula Demkow / Andrzej Kochanski
- Conclusions / Urszula Demkow / Andrzej Kochanski
- References / Andrzej Kochanski / Urszula Demkow.