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Record Nr. |
UNINA9910463374403321 |
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Titolo |
Cardiovascular genetics and genomics in clinical practice / / editors, Sanjiv J. Shah, Donna K. Arnett |
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Pubbl/distr/stampa |
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New York : , : demosMEDICAL, , 2015 |
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©2015 |
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ISBN |
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Descrizione fisica |
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1 online resource (326 p.) |
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Disciplina |
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Soggetti |
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Heart - Diseases - Genetic aspects |
Electronic books. |
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Lingua di pubblicazione |
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Formato |
Materiale a stampa |
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Livello bibliografico |
Monografia |
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Note generali |
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Description based upon print version of record. |
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Nota di bibliografia |
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Includes bibliographical references at the end of each chapters and index. |
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Nota di contenuto |
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Cover; Title; Copyright; Contents; Contributors; Preface; References; Video Captions; Share Cardiovascular Genetics and Genomics in Clinical Practice; Part I: Genetics and Genomics: The Basics; Chapter 1: Mendelian Genetics; Take Home Points; Mendel's Laws; Modes of Inheritance; Methods Used to Determine Modes of Inheritance; Clinical Utility of Genetic Information; Glossary; References; Chapter 2: Genetics of Complex Traits; Take Home Points; Quantitative Traits; Familial Aggregation; Measuring Familial Aggregation; Concordance Versus Discordance; Allele Sharing; Twin Studies |
Concordance of MZ Versus DZ TwinsTwins Reared Apart; Limitations of Twin Studies; Heritability; Conclusions; References; Chapter 3: Genome-Wide Association Studies; Take Home Points; Why do we Need GWAS?; Genetic Basis of GWAS; Simple GWAS; Beyond GWAS Basics: Challenges and Limitations; Limitations of GWAS; Using GWAS Results; GWAS Success in Cardiovascular Disease; Summary; Glossary; References; Chapter 4: Bioinformatics; Take Home Points; Following Up on Linkage Analyses; Following Up on Genome-Wide Association Studies; Obtaining Information on Candidate Genes |
Characterizing DNA Variants Found within GenesReferences; Chapter 5: Epigenetics; Take Home Points; DNA Methylation; Histone Modifications; Challenges and Opportunities for Human CVD Epigenetic |
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Studies; References; Chapter 6: MicroRNAs; Take Home Points; MicroRNA Structure and Function; MicroRNA and Cardiac Function; MicroRNA as Biomarkers; MicroRNA Therapeutics; Conclusions; References; Chapter 7: Gene Expression; Take Home Points; Microarray Technology; Quality Control; Data Normalization; Data Analysis; Ontology and Pathway Analysis; Validation and Meta-Analysis; Conclusions; References |
Chapter 8: Whole-Exome and Whole-Genome SequencingTake Home Points; Overview of Exome Chip, WES, and WGS Technologies; Available Strategies for the Conduct of WES Studies; Application of WES to Cardiovascular Disease; Next-Generation Sequencing Technologies for Clinical Diagnostics; Future Directions; Conclusions; References; Chapter 9: Gene-Environment Interactions; Take Home Points; Defining Interactions; Investigating Interactions: Study Design; Investigating Interactions: Statistical Power; Gene-Environment Interactions in Cardiovascular Disease |
The Promise and Challenges of Gene-Environment Interaction ResearchSummary; References; Chapter 10: Genetic Counseling; Take Home Points; Definition of Genetic Counseling; The Power of the Pedigree and Family Health History; Risk Assessment Beyond Basic Mendelian Principle; Psychosocial Counseling; Genetic Counselors in Cardiovascular Practice; Cardiovascular Genetic Testing; Partners in Practice; Conclusions; References; Part II: Genetics of Cardiovascular Disorders/Traits; Chapter 11: Blood Pressure Genomics; Take Home Points |
Case Study: Severe Monogenic Hypertension-An Application of Whole-Exome Sequencing |
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Sommario/riassunto |
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Cardiovascular Genetics and Genomics in Clinical Practice presents clinical cases to illuminate basic concepts of cardiovascular genetics and genomics as practitioners encounter them in day-to-day practice. The unique use of real-world case discussions facilitates the memorization and understanding of basic principles, which can be more readily applied to actual cases. Cardiovascular Genetics and Genomics in Clinical Practice features a step-by-step learning process that begins with an easy-to-understand ""primer"" of basic scientific concepts regarding cardiovascular genetics and genomics fol |
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