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TABLE OF CONTENTS

I. INTRODUCTION 6

II. PREPARING THE INPUT FILES 7

II.1. Pedigree Structure: trip.dat 7

II.2. Computation Order: order.dat 7

II.3. Marker/Trait Descriptions: header.dat 8

II.4. Phenotype Data: phen.dat, ascer.dat 8

II.5. Population Information: popln.dat 10

III. USING THE PROGRAMS 11

III.1. Data Preparation Program: preped 12

III.2. Descriptive Statistics Program: descstat 13

III.3. Analysis Preparation Program: prepap 13

III.4. Simulation Program: simul 14

III.5. Analysis Program: papdr 15

III.6. Estimation Program: gpe 16

IV. DEFINING THE MODEL 17

IV.1. Execution Options 17

IV.2. Transmission Parameters 20

IV.3. Recombination Parameters 22

IV.4. Frequency Parameters 22

IV.5. Discrete Trait Parameters 24

IV.6. Quantitative Trait Parameters 27

IV.7. Within-Genotype Parameters 29

IV.8. Multivariate Parameters 30

IV.9. Genotype-Assignment Codes 30

V. PERFORMING THE ANALYSIS 34

V.1. Preparing for the Analysis 34

V.2. Checking for Errors 35

V.3. Maximizing the Likelihoods 36

V.4. Interpreting the Results 37

VI. UNDERSTANDING THE PACKAGE 38

VI.1. Computation Order 38

VI.2. Genotype Order 38

VI.3. Genotype Combining 39

VI.4. Ascertainment Correction 40

VI.5. Use of Logarithms 41

VI.6. Likelihood Calculation 42

VI.7. Genotypic Probabilities 43

VI.8. Penetrance Probabilities 43

VI.9. Genotype Simulation 44

VI.10. Conditioning Process 45

VI.11. Reverse Conditioning 46

VII. WRITING CUSTOM SUBROUTINES 48

VII.1. Frequency: papfq 48

VII.2. Transmission: paptc 48

VII.3. Major Locus Discrete: dmlpr 49

VII.4. Major Locus Quantitative: qmlpr 49

VII.5. Within Genotype: papwg 50

VIII. ACKNOWLEDGMENTS 51

IX. REFERENCES 52

A. FILE LISTS 55

A.1. Command Files 55

A.2. Include Files 55

A.3. Source Files 56

A.4. Input Files 58

A.5. Test Data Files 58

A.6. Parameter Files 59

A.7. Output Files 60

B. FILE FORMATS 61

B.1. Pedigree Structure: trip.dat 61

B.2. Computation Order: order.dat 61

B.3. Trait/Marker Descriptions: header.dat 61

B.4. Phenotype Data: phen.dat and ascer.dat 63

B.5. Population Information: popln.dat 63

B.6. Pedigree and Phenotype Data: papin.dat 64

B.7. Model and Parameter Information: model.dat 65

B.8. Frequency Subroutine List: freq.dat 69

B.9. Transmission Subroutine List: tran.dat 70

B.10. Major Locus Discrete Subroutine List: dmlp.dat 71

B.11. Major Locus Quantitative Subroutine List: qmlp.dat 72

B.12. Within Genotype Subroutine List: wgen.dat 74

C. SUBROUTINE LIBRARIES 76

C.1. Frequency: papfq 76

C.2. Transmission: paptc 77

C.3. Major Locus Discrete: dmlpr 79

C.4. Major Locus Quantitative: qmlpr 80

C.5. Within Genotype: papwg 81

D. TEST EXAMPLES 82

D.1. Execution Options 84

D.2. Transmission Parameters 86

D.3. Recombination Parameters 87

D.4. Frequency Parameters 89

D.5. Discrete Trait Parameters 91

D.6. Quantitative Trait Parameters 93

D.7. Within-Genotype Parameters 94

D.8. Multivariate Parameters 96

D.9. Genotype-Assignment Codes 97

E. ERROR MESSAGES104

E.1. Errors in the Files: filerr104

E.2. Errors in the Data Files: daterr105

E.3. Errors in the Genetic Model: moderr107

E.4. Execution Errors: paperr110

F. CHANGES FROM REVISION 3112

F.1. Files112

F.2. Programs112

F.3. Genetic Models113

F.4. Algorithms113


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