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Preface xi
List of figures xiii
List of tables xvii
Introduction 1
Statistics, forensic science and the law 1
The use of statistics in forensic DNA 1
Genetic basis of DNA profiling and typing technology 3
Genetic basis 3
Typing technology 4
About the book 5
Probability and statistics 7
Probability 7
Dependent events and conditional probability 9
Law of total probability 10
Bayes' Theorem 11
Binomial probability distribution 12
Multinomial distribution 13
Poisson distribution 14
Normal distribution 14
Likelihood ratio 16
Statistical inference 17
Test of hypothesis 17
Estimation and testing 19
Problems 20
Population genetics 23
Hardy-Weinberg equilibrium 23
Test for Hardy-Weinberg equilibrium 25
Observed and expected heterozygosities 25
Chi-square test 27
Fisher's exact test 29
Computer software 30
Other statistics for analysis of a population database 31
Linkage equilibrium 31
Power of discrimination 33
DNA profiling 35
Subpopulation models 37
Relatives 42
Problems 45
Parentage testing 47
Standard trio 47
Paternity index 47
An example 48
Posterior odds and probability of paternity 49
Paternity computer software 52
Steps in running the software 52
The software to deal with an incest case 52
A relative of the alleged father is the true father 54
Alleged father unavailable but his relative is 57
Motherless case 58
Paternity index 58
Computer software and example 59
Motherless case: relatives involved 60
A relative of the alleged father is the true father 60
Alleged father unavailable but his relative is 62
Computer software and example 62
Determination of both parents 63
Probability of excluding a random man from paternity 66
Power of exclusion 68
A random man case 68
A relative case 69
An elder brother case: mother available 71
Other issues 74
Reverse parentage 74
Mutation 75
Problems 76
Testing for kinship 79
Kinship testing of any two persons: HWE 79
Computer software 83
Kinship testing of two persons: subdivided populations 83
Joint genotype probability 83
Relatives involved 87
Examples with software 89
Three persons situation: HWE 91
Computer software and example 95
Three persons situation: subdivided populations 96
Standard trio 96
A relative of the alleged father is the true father 97
Alleged father unavailable but his relative is 99
Example 99
General method and computer software 101
Complex kinship determinations: method and software 102
EasyPA_In_1_Minute software and the method 104
EasyPAnt_In_1_Minute 107
EasyIN_In_1_Minute 107
EasyMISS_In_1_Minute 108
Other considerations: probability of paternity and mutation 110
Problems 111
Interpreting mixtures 113
An illustrative example 113
Some common cases and a case example 115
One victim, one suspect and one unknown 115
One suspect and two unknowns 116
Two suspects and two unknowns 117
Case example 118
Exclusion probability 119
A general approach 121
Population in Hardy-Weinberg equilibrium 122
Population with multiple ethnic groups 124
Subdivided population 128
Single ethnic group: simple cases 128
Single ethnic group: general situations 128
Multiple ethnic groups 132
Computer software and example 134
NRC II Recommendation 4.1 135
Single ethnic group 135
Multiple ethnic groups 137
Proofs 141
The proof of Equation (6.6) 141
The proof of Equation (6.8) 142
The proof of Equation (6.9) 142
The proofs of Equations (6.11) and (6.12) 142
The proofs of Equations (6.14) and (6.15) 145
Problems 145
Interpreting mixtures in the presence of relatives 147
One pair of relatives: HWE 147
Motivating example 148
A probability formula 149
Tested suspect with an unknown relative 150
Unknown suspect with a tested relative 151
Two related persons were unknown contributors 152
An application 153
Two pairs of relatives: HWE 157
Two unknowns related respectively to two typed persons 159
One unknown is related to a typed person and two other unknowns are related 160
Two pairs of related unknowns 161
Examples 161
Extension 165
Related people from the same subdivided population 165
Introductory example 165
A simple case with one victim, one suspect and one relative 167
General formulas 167
An example analyzed by the software 170
Proofs 172
Preliminary 172
The proof of Equation (7.5) 180
The proof of Equation (7.7) 180
The proof of Equation (7.9) 181
The proof of Equation (7.11) 181
The proof of Equation (7.13) 181
The proofs of Equations (7.18) and (7.20) 181
Problems 186
Other issues 187
Lineage markers 187
Haplotypic genetic markers for mixture 189
Bayesian network 191
Peak information 194
Mass disaster 196
Database search 197
Solutions to problems 201
The standard normal distribution 225
Upper 1% and 5% points of x[superscript 2] distributions 227
Bibliography 229
Index 237
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