05291nam 2200625 450 991046337440332120200520144314.01-61705-178-0(CKB)2670000000573350(EBL)1827580(SSID)ssj0001367598(PQKBManifestationID)12538086(PQKBTitleCode)TC0001367598(PQKBWorkID)11444932(PQKB)11058328(MiAaPQ)EBC1827580(Au-PeEL)EBL1827580(CaPaEBR)ebr10962305(CaONFJC)MIL655047(OCoLC)894629983(EXLCZ)99267000000057335020150105h20152015 uy 0engur|n|---|||||txtccrCardiovascular genetics and genomics in clinical practice /editors, Sanjiv J. Shah, Donna K. ArnettNew York :demosMEDICAL,2015.©20151 online resource (326 p.)Description based upon print version of record.1-62070-014-X 1-322-23767-0 Includes bibliographical references at the end of each chapters and index.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 StudiesConcordance 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 GenesCharacterizing DNA Variants Found within GenesReferences; Chapter 5: Epigenetics; Take Home Points; DNA Methylation; Histone Modifications; Challenges and Opportunities for Human CVD Epigenetic 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; ReferencesChapter 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 DiseaseThe 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 PointsCase Study: Severe Monogenic Hypertension-An Application of Whole-Exome SequencingCardiovascular 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 folHeartDiseasesGenetic aspectsElectronic books.HeartDiseasesGenetic aspects.616.1/2042Shah SanjivArnett Donna K.MiAaPQMiAaPQMiAaPQBOOK9910463374403321Cardiovascular genetics and genomics in clinical practice2460881UNINA