Foreword |
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xi | |
Preface |
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xiii | |
Acknowledgments |
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xv | |
Authors |
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xvii | |
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xix | |
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xxiii | |
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xxv | |
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xxvii | |
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1 History of DNA-Based Human Identification in Forensic Science |
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1 | (12) |
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1 | (1) |
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1.2 Application of DNA Sequencing to Human DNA |
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1 | (1) |
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1.3 History of DNA Typing |
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2 | (6) |
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1.4 Next Generation Sequencing for Forensic DNA Typing |
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8 | (2) |
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10 | (3) |
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10 | (1) |
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11 | (2) |
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2 History of Sequencing for Human DNA Typing |
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13 | (18) |
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13 | (1) |
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2.2 Common Chemistries Used in Sequencing Applications |
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13 | (4) |
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2.2.1 Chain Termination Sequencing |
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13 | (1) |
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14 | (2) |
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2.2.3 Sequencing by Ligation |
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16 | (1) |
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17 | (2) |
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17 | (2) |
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19 | (1) |
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19 | (1) |
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19 | (4) |
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2.4.1 First-Generation Sequencing Techniques |
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19 | (1) |
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2.4.1.1 Sanger Sequencing |
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19 | (1) |
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2.4.1.2 SNaPShot Sequencing |
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20 | (1) |
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21 | (2) |
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2.5 Massively Parallel Sequencing |
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23 | (2) |
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2.5.1 Reversible Chain Termination MPS Platforms |
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23 | (1) |
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2.5.2 Ion Detection Platforms |
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23 | (1) |
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2.5.3 Sequencing by Ligation Platforms |
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24 | (1) |
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2.5.4 Single Base Extension Platforms |
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25 | (1) |
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2.5.5 Third-Generation Platforms |
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25 | (1) |
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2.6 NGS Instruments Adopted for Forensic Science |
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25 | (6) |
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28 | (1) |
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28 | (3) |
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3 Sample Preparation, Standards, and Library Preparation for Next Generation Sequencing |
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31 | (16) |
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3.1 Overview of the NGS Sample Preparation Process |
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31 | (1) |
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3.2 Sample Handling and Processing |
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31 | (1) |
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32 | (2) |
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34 | (1) |
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35 | (4) |
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3.6 Library Purification and Normalization |
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39 | (2) |
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3.7 Multiplexing and Denaturation |
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41 | (6) |
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42 | (1) |
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42 | (5) |
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4 Performing Next Generation Sequencing |
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47 | (10) |
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4.1 Performing Next Generation Sequencing |
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47 | (1) |
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4.2 Verogen MiSeq FGx® Sequencing |
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47 | (6) |
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4.3 ThermoFisher Ion Torrent™ and Ion PGM Sequencing |
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53 | (1) |
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54 | (3) |
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54 | (1) |
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55 | (2) |
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5 Next Generation Sequencing Data Analysis and Interpretation |
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57 | (30) |
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57 | (1) |
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5.2 Verogen Universal Analysis Software |
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58 | (11) |
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5.3 ThermoFisher Converge Software |
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69 | (5) |
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5.4 Phenotype Analysis Using the Erasmus Server |
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74 | (3) |
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5.5 Other Sequence Analysis Software |
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77 | (1) |
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5.6 Additional Tools for Mixture Interpretation |
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78 | (1) |
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5.7 Other NGS Sequence Data Analysis Tools |
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79 | (1) |
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5.8 NGS Validation and Applications |
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80 | (7) |
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83 | (1) |
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83 | (4) |
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6 Next Generation Sequencing Troubleshooting |
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87 | (8) |
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6.1 Troubleshooting NGS Sequencing |
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87 | (1) |
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6.2 Troubleshooting MiSeq FGx Instrument Failure |
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87 | (2) |
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6.3 Troubleshooting MiSeq FGx Run Failure |
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89 | (3) |
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6.4 Troubleshooting Ion Series Run Failure |
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92 | (3) |
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94 | (1) |
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94 | (1) |
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7 Mitochondrial DNA Typing Using Next Generation Sequencing |
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95 | (22) |
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7.1 Introduction to Mitochondrial DNA Typing |
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95 | (1) |
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7.2 The Sequence of the Mitochondrial Chromosome |
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96 | (2) |
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7.3 Mitochondrial DNA Typing Methods |
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98 | (1) |
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7.4 Mitochondrial DNA Typing Using Next Generation Sequencing |
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98 | (4) |
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7.5 Mitochondrial Sequence Data Interpretation and Reporting |
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102 | (5) |
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7.6 Recent Reports of Mitotyping Using NGS for Forensic Applications |
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107 | (1) |
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7.7 Mitochondrial Sequence Data and Databases |
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108 | (9) |
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109 | (1) |
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109 | (8) |
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8 Microbial Applications of Next Generation Sequencing for Forensic Investigations |
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117 | (20) |
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8.1 Introduction to Microbial DNA Profiling |
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117 | (1) |
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118 | (1) |
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8.3 The Human Microbiome Project |
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118 | (1) |
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8.4 Sampling and Processing |
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118 | (1) |
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8.5 NGS Methodology in Microbial Forensics |
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119 | (1) |
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8.6 Results from the Human Microbiome Project |
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120 | (1) |
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8.7 HMP Applications for Forensic Science |
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121 | (4) |
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8.8 NGS Applications in Geolocation, Autopsy, PMI, and Lifestyle Analysis |
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125 | (1) |
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8.9 Bioinformatic Approaches and Tools |
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126 | (1) |
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8.10 Bioforensics and Biosurveillance |
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127 | (1) |
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8.11 Infectious Disease Diagnostics |
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128 | (1) |
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8.12 NGS Applications in Archeology |
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129 | (1) |
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8.13 Summary of NGS Microbial Sequencing Applications in Forensic Investigation |
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129 | (8) |
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130 | (1) |
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130 | (7) |
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9 Body Fluid Analysis Using Next Generation Sequencing |
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137 | (8) |
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137 | (1) |
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9.2 Epigenetic-Based Tissue Source Attribution |
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137 | (2) |
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9.3 mRNA-Based Tissue Source Attribution |
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139 | (1) |
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140 | (1) |
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9.5 The Future of Body Fluid Assays |
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141 | (4) |
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141 | (1) |
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142 | (3) |
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10 Conclusions and Future Outlook of Next Generation Sequencing in Forensic Science |
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145 | (14) |
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145 | (1) |
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146 | (1) |
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10.3 Ongoing Challenges of Adopting NGS for Forensic Investigations |
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147 | (5) |
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10.4 Early Successes of NGS in Forensic Cases |
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152 | (2) |
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154 | (5) |
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154 | (1) |
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154 | (5) |
Index |
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159 | |