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Human genetics and genomics : a practical guide / Bahar Taneri [and five others].

By: Contributor(s): Material type: TextTextPublisher: Weinheim : Wiley-VCH, 2020Description: xvii, 142 pages, illustrations (some coloured), 24 cmISBN:
  • 9783527682638 (ePub ebook) :
  • 9783527682652 (PDF ebook) :
Subject(s): DDC classification:
  • 576.5 TAN 23
Contents:
About the Authors xi Introduction xv 1 Exploring Online Genetics Sources 1 Background 1 Human Genome Project 2 National Center for Biotechnology Information (NCBI) 2 UCSC Genome Browser 3 The Encyclopedia of DNA Elements (ENCODE) 3 Roadmap Epigenomic Project 5 References 5 Exercise Questions 6 Additional Exercise Questions 11 2 Observation of Human Inheritance 13 Background 13 Mendelian Genetics 13 The Transmission of Hereditary Characteristics 16 Mendelian Disorders 19 References 20 Exercise Questions 21 Additional Exercise Questions 22 3 Reading, Understanding,
and Constructing Human Pedigrees 25 Background 25 Basic Pedigree Nomenclature 26 Modes of Inheritance 26 Autosomal Recessive Inheritance 28 Pedigrees Representing Autosomal Recessive Inheritance 28 Autosomal Dominant Inheritance 29 Pedigrees Representing Autosomal Dominant Inheritance 30 X-Linked Recessive Inheritance 30 Pedigrees Representing X-Linked Recessive Inheritance 31 X-Linked Dominant Inheritance 32 Pedigrees Representing X-Linked Dominant Inheritance 32 Y-Linked Inheritance 34 Pedigrees Representing Y-Linked Inheritance 34 Non-Mendelian Patterns of Inheritance 35 Confounding Factors in Pedigree Generation and Interpretation 36 References 36 Exercise Questions 38 Additional Exercise Questions 39 4 Cytogenetics 43 Background 43 Generation of Karyograms/Chromosome Banding 45 FISH,
Fluorescent In Situ Hybridization 47 Comparative Genomic Hybridization (CGH) and Array-Based CGH Technology 48 Chromosomal Abnormalities 48 Numerical Chromosomal Abnormalities 49 Structural Chromosomal Abnormalities 50 References 51 Exercise Questions 52 Additional Exercise Questions 54 5 Exploring DNA, RNA,
and Protein Sequence Databases and Genome Browsers 55 Background 55 General Biological Databases 57 RNA-Specific Databases 59 Protein-Specific Databases 61 Regulatory DNA Database 62 Genome Browsers 65 References 67 Exercise Questions 67 Additional Exercise Questions 68 6 Exploring Online Bioinformatics Tools 71 Background 71 BLAST 71 ExPASy 72 Clustal Omega 74 Reactome 76 References 77 Exercise Questions 77 Additional Exercise Questions 79 7 Multifactorial Inheritance and Common Complex Diseases 81 Background 81 Polygenic Complex Diseases 82 Investigating Complex Traits 82 Obesity as a Complex Disease 83 Diabetes Mellitus Type 2 as a Complex Disease 84 Coronary Artery Diseases as Complex Diseases 85 References 86 Exercise Questions 88 Additional.
Exercise Questions 88 8 Neurogenetics and Behavioral Genetics 91 Background 91 Genetic Regulation of Neural Development 91 Structure and Function of the Nervous System 92 Understanding the Genetics of Neurological Disease 94 Examples of Neurogenetic Disorders 94 Huntington’s Disease 94 Parkinson’s Disease 95 Rett Syndrome 95 Behavioral Genetics 96 Genetics of Depression 97 Genetics of Drug Addiction 97 Genetics of Schizophrenia 98 References 99 Exercise Questions 100 Additional Exercise Questions 101 9 Cancer Genetics 103 Background 103 Cell Cycle and Its Regulation 104 Oncogenes and Tumor Suppressor Genes 105 Carcinogens/Environmental Factors in Cancer 107 Breast Cancer 108 Role of Molecular Medicine in Breast Cancer Treatment 110 Recent Advances in Cancer Diagnosis and Treatment 111.
References 112 Exercise Questions 113 Additional Exercise Questions 114 10 Genetic Counseling 115 Background 115 References 117 Exercise Questions 117 Additional Exercise Questions 119 11 Evolving Tools in Genome Editing: CRISPR-Cas 121 Background 121 Mechanism of CRISPR-Cas9 System 123 Applications of CRISPR-Cas9 System 123 Generation of Animal Models and Engineering Cells 123 Somatic Genome Editing 124 Repair of Genetic Disorders 124 Functional Genomic Screening 124 Treatment of Infectious Diseases 125 Other Applications of CRISPR-Cas9 System 125 References 126 Acknowledgment 127 Exercise Questions 127 Additional Exercise Questions 128 Glossary 129 Index 139.
Holdings
Item type Current library Call number Status Date due Barcode
Long Loan TUS: Midlands, Main Library Athlone General Lending 576.5 TAN (Browse shelf(Opens below)) Available 224894
Long Loan TUS: Midlands, Main Library Athlone General Lending 576.5 TAN (Browse shelf(Opens below)) Available 224895

About the Authors xi Introduction xv 1 Exploring Online Genetics Sources 1 Background 1 Human Genome Project 2 National Center for Biotechnology Information (NCBI) 2 UCSC Genome Browser 3 The Encyclopedia of DNA Elements (ENCODE) 3 Roadmap Epigenomic Project 5 References 5 Exercise Questions 6 Additional Exercise Questions 11 2 Observation of Human Inheritance 13 Background 13 Mendelian Genetics 13 The Transmission of Hereditary Characteristics 16 Mendelian Disorders 19 References 20 Exercise Questions 21 Additional Exercise Questions 22 3 Reading, Understanding,

and Constructing Human Pedigrees 25 Background 25 Basic Pedigree Nomenclature 26 Modes of Inheritance 26 Autosomal Recessive Inheritance 28 Pedigrees Representing Autosomal Recessive Inheritance 28 Autosomal Dominant Inheritance 29 Pedigrees Representing Autosomal Dominant Inheritance 30 X-Linked Recessive Inheritance 30 Pedigrees Representing X-Linked Recessive Inheritance 31 X-Linked Dominant Inheritance 32 Pedigrees Representing X-Linked Dominant Inheritance 32 Y-Linked Inheritance 34 Pedigrees Representing Y-Linked Inheritance 34 Non-Mendelian Patterns of Inheritance 35 Confounding Factors in Pedigree Generation and Interpretation 36 References 36 Exercise Questions 38 Additional Exercise Questions 39 4 Cytogenetics 43 Background 43 Generation of Karyograms/Chromosome Banding 45 FISH,

Fluorescent In Situ Hybridization 47 Comparative Genomic Hybridization (CGH) and Array-Based CGH Technology 48 Chromosomal Abnormalities 48 Numerical Chromosomal Abnormalities 49 Structural Chromosomal Abnormalities 50 References 51 Exercise Questions 52 Additional Exercise Questions 54 5 Exploring DNA, RNA,

and Protein Sequence Databases and Genome Browsers 55 Background 55 General Biological Databases 57 RNA-Specific Databases 59 Protein-Specific Databases 61 Regulatory DNA Database 62 Genome Browsers 65 References 67 Exercise Questions 67 Additional Exercise Questions 68 6 Exploring Online Bioinformatics Tools 71 Background 71 BLAST 71 ExPASy 72 Clustal Omega 74 Reactome 76 References 77 Exercise Questions 77 Additional Exercise Questions 79 7 Multifactorial Inheritance and Common Complex Diseases 81 Background 81 Polygenic Complex Diseases 82 Investigating Complex Traits 82 Obesity as a Complex Disease 83 Diabetes Mellitus Type 2 as a Complex Disease 84 Coronary Artery Diseases as Complex Diseases 85 References 86 Exercise Questions 88 Additional.

Exercise Questions 88 8 Neurogenetics and Behavioral Genetics 91 Background 91 Genetic Regulation of Neural Development 91 Structure and Function of the Nervous System 92 Understanding the Genetics of Neurological Disease 94 Examples of Neurogenetic Disorders 94 Huntington’s Disease 94 Parkinson’s Disease 95 Rett Syndrome 95 Behavioral Genetics 96 Genetics of Depression 97 Genetics of Drug Addiction 97 Genetics of Schizophrenia 98 References 99 Exercise Questions 100 Additional Exercise Questions 101 9 Cancer Genetics 103 Background 103 Cell Cycle and Its Regulation 104 Oncogenes and Tumor Suppressor Genes 105 Carcinogens/Environmental Factors in Cancer 107 Breast Cancer 108 Role of Molecular Medicine in Breast Cancer Treatment 110 Recent Advances in Cancer Diagnosis and Treatment 111.

References 112 Exercise Questions 113 Additional Exercise Questions 114 10 Genetic Counseling 115 Background 115 References 117 Exercise Questions 117 Additional Exercise Questions 119 11 Evolving Tools in Genome Editing: CRISPR-Cas 121 Background 121 Mechanism of CRISPR-Cas9 System 123 Applications of CRISPR-Cas9 System 123 Generation of Animal Models and Engineering Cells 123 Somatic Genome Editing 124 Repair of Genetic Disorders 124 Functional Genomic Screening 124 Treatment of Infectious Diseases 125 Other Applications of CRISPR-Cas9 System 125 References 126 Acknowledgment 127 Exercise Questions 127 Additional Exercise Questions 128 Glossary 129 Index 139.

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